Gene Detail

Gene Symbol PTEN
Synonyms 10q23del | BZS | CWS1 | DEC | GLM2 | MHAM | MMAC1 | PTEN1 | PTENbeta | TEP1
Gene Description PTEN, phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN, is a tumor suppressor with roles in the cell cycle, growth, DNA repair, cell survival and regulation of the Akt-mTOR pathway (PMID: 24656806, PMID: 30145641). PTEN alterations resulting in loss of function have been found in many types of cancer including, but not limited to endometrial (PMID: 30142194), melanoma (PMID: 30148988), and prostate (PMID: 18767981, PMID: 30153654).
ACMG Incidental List v2.0:
Yes, PTEN hamartoma tumor syndrome (PMID: 27854360)
Entrez Id 5728
Chromosome 10
Map Location 10q23.31
Canonical Transcript NM_000314

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
D24V missense unknown PTEN D24V lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D24V has been identified in sequencing studies (PMID: 25527629, PMID: 24498881), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
D92H missense loss of function - predicted PTEN D92H lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D92H is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
G44D missense loss of function - predicted PTEN G44D lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G44D is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
Q110K missense unknown PTEN Q110K lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Q110K has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
V119K missense unknown PTEN V119K lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). V119K has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
Q214* nonsense loss of function - predicted PTEN Q214* results in a premature truncation of the Pten protein at amino acid 214 of 403 within the C2 tensin-type domain (UniProt.org). Q214* has not been characterized, however other C-terminal deletion mutants downstream of Q214 are inactivating (PMID: 10468583), thus Q214* is predicted to lead to a loss of Pten protein function.
A39P missense loss of function - predicted PTEN A39P lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). A39P is predicted to confer a loss of function to the Pten protein, as demonstrated by failure to inhibit Akt phosphorylation in cell culture (PMID: 25527629).
C250fs frameshift loss of function - predicted PTEN C250fs results in a change in the amino acid sequence of the Pten protein beginning at 250 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). C250fs has not been characterized, however, other C-terminal deletion mutants downstream of C250 are inactivating (PMID: 10468583), thus C250fs is predicted to lead to a loss of Pten protein function.
D252V missense unknown PTEN D252V lies within the C2 tensin-type domain of the Pten protein (UniProt.org). D252V has been identified in sequencing studies (PMID: 25527629), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
K254fs frameshift loss of function - predicted PTEN K254fs results in a change in the amino acid sequence of the Pten protein beginning at 254 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). K254fs has not been characterized, however, other C-terminal deletion mutants downstream of K254 are inactivating (PMID: 10468583), thus K254fs is predicted to lead to a loss of Pten protein function.
N323fs frameshift loss of function - predicted PTEN N323fs results in a change in the amino acid sequence of the Pten protein beginning at aa 323 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). N323fs has not been characterized, however, other C-terminal deletion mutants downstream of N323 are inactivating (PMID: 10468583), thus N323fs is predicted to lead to a loss of Pten protein function.
I122fs frameshift loss of function - predicted PTEN I122fs results in a change in the amino acid sequence of the Pten protein beginning at 122 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). I122fs has not been characterized, however, other C-terminal deletion mutants downstream of I122 are inactivating (PMID: 10468583), thus I122fs is predicted to lead to a loss of Pten protein function.
Q219* nonsense loss of function - predicted PTEN Q219* results in a premature truncation of the Pten protein at amino acid 214 of 403 within the C2 tensin-type domain (UniProt.org). Q219* has not been characterized, however other C-terminal deletion mutants downstream of Q219 are inactivating (PMID: 10468583), thus Q219* is predicted to lead to a loss of Pten protein function.
R130* nonsense loss of function PTEN R130* results in a premature truncation of the Pten protein at amino acid 130 of 403 within the phosphatase tensin-type domain (UniProt.org). R130* confers a loss of function to the Pten protein as demonstrated by decreased p53 signaling and increased DNA damage in xenografts (PMID: 24721394) and increased transformation ability in two different cell lines, as compared to wild-type Pten (PMID: 29533785).
I253T missense unknown PTEN I253T lies within the C2 tensin-type domain of the Pten protein (UniProt.org). I253T has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
V275* nonsense loss of function - predicted PTEN V275* results in a premature truncation of the Pten protein at amino acid 275 of 403 (UniProt.org). V275* has not been characterized, however, other C-terminal deletion mutants downstream of V275 are inactivating (PMID: 10468583), thus, V275* is predicted to lead to a loss of Pten protein function.
Y68H missense loss of function PTEN Y68H lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y68H confers a loss of function to the Pten protein, as demonstrated by a loss of phosphatase activity (PMID: 10866302) and reduced protein stability (PMID: 20926450).
D252G missense unknown PTEN D252G lies within the C2 tensin-type domain of the Pten protein (UniProt.org). The effect of D252G on Pten protein function is conflicting, as D252G results in decreased phosphatase activity (PMID: 29373119), but is still able to inhibit Pi3k activation in cell culture (PMID: 21828076, PMID: 25527629).
T131fs frameshift loss of function - predicted PTEN T131fs results in a change in the amino acid sequence of the Pten protein beginning at aa 131 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the disruption of the phosphatase tesin-type domain and the loss of the C2 tensin-type domain (UniProt.org), T131fs is predicted to lead to a loss of Pten protein function.
R15S missense loss of function PTEN R15S lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R15S results in a loss of Pten phosphatase activity, is unable to suppress cell proliferation in culture (PMID: 9823298), and has impaired nuclear localization (PMID: 17213812).
K13* nonsense loss of function - predicted PTEN K13* results in a premature truncation of the Pten protein at amino acid 13 of 403 (UniProt.org). Due to the loss of the phosphatase tensin-type domain (UniProt.org), K13* is predicted to lead to a loss of Pten function.
L112R missense loss of function - predicted PTEN L112R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L112R is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity in an in-vitro assay (PMID: 10866302).
Y155fs frameshift loss of function - predicted PTEN Y155fs results in a change in the amino acid sequence of the PTEN protein beginning at aa 155 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). Y155fsfs has not been characterized, however other C-terminal deletion mutants downstream of Y155 are inactivating (PMID: 10468583), thus Y155fs is predicted to lead to a loss of Pten protein function.
K125L missense loss of function PTEN K125L lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). K125L confers a loss of function to the Pten protein as demonstrated by decreased phosphatase activity in yeast (PMID: 21828076) and loss of phosphatase activity in cell culture (PMID: 25873899).
Q399* nonsense unknown PTEN Q399* results in a premature truncation of the Pten protein at amino acid 399 of 403 (UniProt.org). Q399* has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
A72fs missense loss of function - predicted PTEN A72fs results in a change in the amino acid sequence of the Apc protein beginning at aa 72 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). A72fs is predicted to confer a loss of function to the Pten protein, as demonstrated by the loss of all known functional domains (UniProt.org) and lack of protein expression in culture (PMID: 21358673).
R14fs frameshift loss of function - predicted PTEN R14fs results in a change in the amino acid sequence of the Pten protein beginning at aa 14 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the phosphatase tensin-type domain (UniProt.org), R14fs is predicted to lead to a loss of Pten function.
K60fs frameshift loss of function - predicted PTEN K60fs results in a change in the amino acid sequence of the Pten protein beginning at aa 60 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the C2 tensin-type domain (UniProt.org), K60fs is predicted to lead to a loss of Pten function.
G293V missense unknown PTEN G293V lies within the C2 tensin-type domain of the Pten protein (UniProt.org). G293V has been identified in sequencing studies (PMID: 22653804), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
K322E missense unknown PTEN K322E lies within the C2 tensin-type domain of the Pten protein (UniProt.org). K322E has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
K128T missense loss of function - predicted PTEN K128T lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). K128T is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
P96Q missense loss of function PTEN P96Q lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). P96Q confers a loss of function to the Pten protein as demonstrated by loss of phosphatase activity and instability in yeast (PMID: 21828076, PMID: 17942903).
Q298* nonsense loss of function - predicted PTEN Q298* results in a premature truncation of the Pten protein at amino acid 298 of 403 within the C2 tensin-type domain (UniProt.org). Q298* has not been biochemically characterized, but is predicted to confer a loss of function on the Pten protein as demonstrated by increased transformation ability in two different cell lines, as compared to wild-type Pten (PMID: 29533785).
R130Q missense loss of function PTEN R130Q lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R130Q confers a loss of function to the Pten protein as demonstrated by loss of phosphatase activity (PMID: 10866302) and increased transformation ability in two different cell lines, as compared to wild-type Pten (PMID: 29533785).
inact mut unknown loss of function PTEN inact mut indicates that this variant results in a loss of function of the PTEN protein. However, the specific amino acid change has not been identified.
R308C missense unknown PTEN R308C lies within the C2 tensin-type domain of the Pten protein (UniProt.org). R308C has been identified in sequencing studies (PMID: 16344319), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
R335L missense loss of function - predicted PTEN R335L lies within the C2 tensin-type domain of the Pten protein (UniProt.org). R335L is predicted to confer a loss of function to the Pten protein, as demonstrated by decreased phosphatase activity in yeast (PMID: 21828076) and is predicted to have reduced interaction with lipids (PMID: 23442912).
L108P missense loss of function PTEN L108P lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L108P results in a loss of Pten phosphatase activity, is unable to suppress Akt activation in cell culture (PMID: 25527629), and has reduced protein stability (PMID: 27405757).
C105S missense unknown PTEN C105S lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C105S has been identified in the scientific literature (PMID: 11916965), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
Y177C missense unknown PTEN Y177C lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y177C has been identified in sequencing studies (PMID: 19644652), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
D107N missense unknown PTEN D107N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D107N has been identified in the scientific literature (PMID: 19471547, PMID: 26800850), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
L193fs frameshift loss of function - predicted PTEN L193fs results in a change in the amino acid sequence of the Pten protein beginning at aa 193 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). L193fs has not been characterized, however other C-terminal deletion mutants downstream of L193 are inactivating (PMID: 10468583), thus L193fs is predicted to lead to a loss of Pten protein function.
R173S missense unknown PTEN R173S lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R173S has been identified in the scientific literature (PMID: 23434733), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Feb 2018).
S294fs frameshift loss of function - predicted PTEN S294fs results in a change in the amino acid sequence of the Pten protein beginning at aa 294 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). S294fs has not been characterized, however other C-terminal deletion mutants downstream of S294 are inactivating (PMID: 10468583), thus S294fs is predicted to lead to a loss of Pten protein function.
K125E missense loss of function PTEN K125E lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). K125E results in a loss of Pten phosphatase activity, decreased p53 transcriptional activity, and increased cell proliferation in culture (PMID: 21828076, PMID: 19457929, PMID: 20926450).
D24Y missense loss of function PTEN D24Y lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D24Y confers a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity and reduced nuclear localization in cell culture (PMID: 25875300, PMID: 17213812).
positive unknown unknown PTEN positive indicates the presence of the PTEN gene, mRNA, and/or protein.
R161G missense loss of function - predicted PTEN R161G lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R161G is predicted to confer a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
D107Y missense loss of function - predicted PTEN D107Y lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D107Y is predicted to confer a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity in an in-vitro assay (PMID: 10866302).
F56V missense unknown PTEN F56V lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). F56V has been identified in sequencing studies (PMID: 18757403, PMID: 11395387), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
G132S missense unknown PTEN G132S lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G132S is predicted to lead to a loss of Pten function in a computational model (PMID: 19654296) and therefore, its effect on Pten protein function is unknown (PubMed, Sep 2018).
D92G missense loss of function - predicted PTEN D92G lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D92G is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
D301N missense no effect - predicted PTEN D301N lies within the C2 tensin-type domain of the Pten protein (UniProt.org). D301N demonstrates inhibition of Akt phosphorylation similar to wild-type Pten in cell culture (PMID: 19329485) and therefore, is predicted to have no effect on Pten protein function.
D24G missense loss of function - predicted PTEN D24G lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D24G has not been biochemically characterized, but is predicted to confer a loss of function on the Pten protein as demonstrated by increased transformation ability in two different cell lines, as compared to wild-type Pten (PMID: 29533785).
L57fs frameshift loss of function - predicted PTEN L57fs results in a change in the amino acid sequence of the Pten protein beginning at aa 57 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the phosphatase tensin-type domain (UniProt.org), L57fs is predicted to lead to a loss of Pten function.
Y27D missense loss of function - predicted PTEN Y27D lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y27D has not been biochemically characterized, but is predicted to confer a loss of function on the Pten protein as demonstrated by increased transformation ability in two different cell lines, as compared to wild-type Pten (PMID: 29533785).
F341V missense loss of function PTEN F341V lies within the C2 tensin-type domain of the Pten protein (UniProt.org). F341V results in a loss of Pten phosphatase activity in an in vitro assay (PMID: 11051241) and loss of binding to PICT-1 (PMID: 15355975).
G165* nonsense loss of function - predicted PTEN G165* results in a premature truncation of the Pten protein at amino acid 165 of 403 (UniProt.org). G165* has not been characterized, however, other C-terminal deletion mutants downstream of G165 are inactivating (PMID: 10468583), thus G165* is predicted to lead to a loss of Pten protein function (PMID: 28350084).
G251C missense loss of function PTEN G251C lies within the C2 tensin-type domain of the Pten protein (UniProt.org). G251C results in a loss of Pten phosphatase activity and is unable to suppress Akt activation and cell proliferation in culture (PMID: 11156408, PMID: 10866302).
L181P missense loss of function - predicted PTEN L181P lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L181P is predicted to confer a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
H93Y missense loss of function PTEN H93Y lies within the phosphatase tesin-type domain of the Pten protein (UniProt.org). H93Y confers a loss of function to the Pten protein as demonstrated by loss of phosphatase activity (PMID: 10866302, PMID: 21828076).
G129E missense loss of function PTEN G129E lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G129E retains protein, but not lipid, phosphatase activity (PMID: 9256433) and is unable to inhibit cell survival and proliferation in culture (PMID: 9811831, PMID: 9823298), and therefore, confers a loss of function to the Pten protein.
L345Q missense loss of function PTEN L345Q lies within the C2 tensin-type domain of the Pten protein (UniProt.org). L345Q confers a loss of function to the Pten protein as demonstrated by loss of phosphatase activity (PMID: 10866302) and reduced ability to suppress transformation of cells in culture (PMID: 10468583).
R55fs frameshift loss of function - predicted PTEN R55fs results in a change in the amino acid sequence of the Pten protein beginning at aa 55 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R55fs is predicted to lead to a loss of Pten protein function.
S287* nonsense loss of function - predicted PTEN S287* results in a premature truncation of the Pten protein at aa 287 of 403 within the C2 tensin-type domain (UniProt.org). S287* has not been characterized, however C-terminal deletion mutants downstream of S287 are inactivating (PMID: 10468583), thus S287* is predicted to lead to a loss of Pten protein function.
N323K missense unknown PTEN N323K lies within the C2 tensin-type domain of the Pten protein (UniProt.org). N323K has been identified in the scientific literature (PMID: 14724591), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
C124S missense loss of function PTEN C124S lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C124S confers a loss of function to the Pten protein as demonstrated by loss of phosphatase activity (PMID: 9256433, PMID: 22413754, PMID: 25263454) and the inability to suppress cell proliferation (PMID: 9811831, PMID: 25263454, PMID: 17213812) and cell migration in culture (PMID: 25263454).
G251A missense unknown PTEN G251A lies within the C2 tensin-type domain of the Pten protein (UniProt.org). G251A has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
C124G missense loss of function PTEN C124G lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C124G results in a loss of Pten phosphatase activity and is unable to suppress cell proliferation in culture (PMID: 9823298).
H93Q missense loss of function - predicted PTEN H93Q lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). H93Q is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
del none loss of function PTEN del indicates a deletion of the PTEN gene.
V343L missense unknown PTEN V343L lies within the C2 tensin-type domain of the Pten protein (UniProt.org). V343L has not been identified in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Sep 2018).
A126fs frameshift loss of function - predicted PTEN A126fs results in a change in the amino acid sequence of the Pten protein beginning at 126 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). A126fs has not been characterized, however, other C-terminal deletion mutants downstream of A126 are inactivating (PMID: 10468583), thus A126fs is predicted to lead to a loss of Pten protein function.
G129R missense loss of function PTEN G129R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G129R confers a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity (PMID: 9256433, PMID: 9823298) and is unable to suppress cell proliferation and inhibit cell growth in culture (PMID: 9823298).
T321fs frameshift loss of function - predicted PTEN T321fs results in a change in the amino acid sequence of the PTEN protein beginning at aa 321 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). T321fs has not been characterized, however other C-terminal deletion mutants downstream of T321 are inactivating (PMID: 10468583), thus T321fs is predicted to lead to a loss of Pten protein function.
N63fs frameshift loss of function - predicted PTEN N63fs results in a change in the amino acid sequence of the Pten protein beginning at aa 63 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the C2 tensin-type domain (UniProt.org), N63fs is predicted to lead to a loss of Pten function.
V317fs frameshift loss of function - predicted PTEN V317fs results in a change in the amino acid sequence of the Pten protein beginning at aa 317 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). V317fs has not been characterized, however other C-terminal deletion mutants downstream of V317 are inactivating (PMID: 10468583), thus V317fs is predicted to lead to a loss of Pten protein function.
P38H missense unknown PTEN P38H lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). P38H has been identified in the scientific literature (PMID: 23361946), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
S227F missense loss of function - predicted PTEN S227F lies within the C2 tensin-type domain of the Pten protein (UniProt.org). S227F is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity in an in-vitro assay (PMID: 10866302).
D268E missense unknown PTEN D268E lies within the C2 tensin-type domain of the Pten protein (UniProt.org). D268E has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
W111R missense unknown PTEN W111R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). W111R has been identified in the scientific literature (PMID: 11476841), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
V119fs frameshift loss of function - predicted PTEN V119fs results in a change in the amino acid sequence of the PTEN protein beginning at aa 119 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the disruption of the phosphatase-tensin type domain (UniProt.org), V119fs is predicted to lead to a loss of Pten protein function.
E288K missense unknown PTEN E288K lies within the C2 tensin-type domain of the Pten protein (UniProt.org). E288K has been identified in sequencing studies (PMID: 10955808), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
P248fs frameshift loss of function - predicted PTEN P248fs results in a change in the amino acid sequence of the Pten protein beginning at aa 248 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). P248fs has not been characterized, however, other C-terminal deletion mutants downstream of P248 are inactivating (PMID: 10468583), thus P248fs is predicted to lead to a loss of Pten protein function.
P38L missense unknown PTEN P38L lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). P38L has been identified in sequencing studies (PMID: 20544847), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
A34D missense loss of function PTEN A34D lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). A34D results in a loss of Pten phosphatase activity in yeast and loss of nuclear Pten localization in cell culture (PMID: 21828076, PMID: 25875300).
T131A missense loss of function - predicted PTEN T131A lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). T131A is predicted to confer a loss of function to the Pten protein, as demonstrated by decreased Pten phosphatase activity (PMID: 21828076).
G129V missense loss of function PTEN G129V lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G129V confers a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076) and induction of a gene expression signature distinct from wild-type Pten (PMID: 27147599).
T167P missense loss of function - predicted PTEN T167P lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). T167P is predicted to confer a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity cell culture (PMID: 9256433).
N340fs frameshift loss of function - predicted PTEN N340fs results in a change in the amino acid sequence of the Pten protein beginning at aa 340 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). N340fs has not been characterized, however, other C-terminal deletion mutants downstream of N340 are inactivating (PMID: 10468583), thus N340fs is predicted to lead to a loss of Pten protein function.
T319fs frameshift loss of function - predicted PTEN T319fs results in a change in the amino acid sequence of the Pten protein beginning at aa 319 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). T319fs has not been characterized, however other C-terminal deletion mutants downstream of T319 are inactivating (PMID: 10468583), thus T319fs is predicted to lead to a loss of Pten protein function.
D115Y missense unknown PTEN D115Y lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D115Y has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
Y76fs frameshift loss of function - predicted PTEN Y76fs results in a change in the amino acid sequence of the Pten protein beginning at aa 76 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). Y76fs has not been characterized, however, other C-terminal deletion mutants downstream of Y76 are inactivating (PMID: 10468583), and thus, Y76fs is predicted to lead to a loss of Pten protein function.
Y68D missense loss of function - predicted PTEN Y68D lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y68D is predicted to confer a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
G129D missense loss of function - predicted PTEN G129D lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G129D is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
Q171K missense unknown PTEN Q171K lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Q171K has been identified in sequencing studies (PMID: 24504440), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
K102fs frameshift loss of function - predicted PTEN K102fs results in a change in the amino acid sequence of the Pten protein beginning at aa 102 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). K102fs has not been characterized, however, other C-terminal deletion mutants downstream of K102 are inactivating (PMID: 10468583), and thus, K163fs is predicted to lead to a loss of Pten protein function.
Y336* nonsense loss of function - predicted PTEN Y336* results in a premature truncation within the C2 tensin-type domain of the Pten protein at amino acid 336 of 403 (UniProt.org). Y336* has not been biochemically characterized, but is predicted to confer a loss of function on the Pten protein as demonstrated by increased transformation ability in two different cell lines, as compared to wild-type Pten (PMID: 29533785).
I122V missense no effect - predicted PTEN I122V lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). I122V demonstrates phosphatase activity similar to wild-type Pten in yeast (PMID: 21828076) and therefore, is predicted to have no effect on Pten protein function.
F154L missense loss of function - predicted PTEN F154L lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). F154L is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity through failure to inhibit Akt phosphorylation in cell culture (PMID: 19329485).
G127R missense loss of function - predicted PTEN G127R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G127R is predicted to confer a loss of function on the Pten protein based on behaving similar to Pten loss of function mutation, G129E (PMID: 27147599) and G127R has demonstrated increased transformation ability in two different cell lines, as compared to wild-type Pten (PMID: 29533785).
L247Sfs*6 frameshift loss of function - predicted PTEN L247Sfs*6 indicates a shift in the reading frame starting at amino acid 247 and terminating 6 residues downstream causing a premature truncation of the 403 amino acid Pten protein (UniProt.org). L247Sfs*6 has not been biochemically characterized, but is predicted to confer a loss of function on the Pten protein as demonstrated by increased transformation ability in two different cell lines, as compared to wild-type Pten (PMID: 29533785).
K260fs frameshift loss of function - predicted PTEN K260fs results in a change in the amino acid sequence of the Pten protein beginning at 260 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). K260fs has not been characterized, however, other C-terminal deletion mutants downstream of K260 are inactivating (PMID: 10468583), thus K260fs is predicted to lead to a loss of Pten protein function.
H61D missense loss of function PTEN H61D lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). H61D results in a loss of Pten phosphatase activity in yeast (PMID: 21828076, PMID: 17942903) and has high protein instability (PMID: 17942903).
Q171P missense unknown PTEN Q171P lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Q171P has been identified in sequencing studies (PMID: 9393744), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
I32del deletion unknown PTEN I32del results in the deletion of one amino acid in the phosphatase tensin-type domain of the Pten protein at amino acid 32 (UniProt.org). I32del has been identified in sequencing studies (PMID: 26437033, PMID: 28027320), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
K125M missense loss of function - predicted PTEN K125M lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). K125M is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
N48K missense loss of function PTEN N48K lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). N48K results in a loss of Pten phosphatase activity as indicated by increased Akt phosphorylation in cell culture (PMID: 14675182, PMID: 25527629).
G143fs frameshift loss of function - predicted PTEN G143fs results in a change in the amino acid sequence of the Pten protein beginning at 143 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). G143fs has not been characterized, however, other C-terminal deletion mutants downstream of G143 are inactivating (PMID: 10468583), thus G143fs is predicted to lead to a loss of Pten protein function.
S294R missense loss of function - predicted PTEN S294R lies within the C2 tensin-type domain of the Pten protein (UniProt.org). S294R has not been biochemically characterized, but is predicted to confer a loss of function on the Pten protein as demonstrated by increased transformation ability in two different cell lines, as compared to wild-type Pten (PMID: 29533785).
I122N missense unknown PTEN I122N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). I122N has been identified in sequencing studies (PMID: 26517354, PMID: 27729313), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
K66N missense unknown PTEN K66N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). K66N has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
K237fs frameshift loss of function - predicted PTEN K237fs results in a change in the amino acid sequence of the Pten protein beginning at 237 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). K237fs has not been characterized, however, other C-terminal deletion mutants downstream of K237 are inactivating (PMID: 10468583), thus K237fs is predicted to lead to a loss of Pten protein function.
H93D missense loss of function - predicted PTEN H93D lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). H93D is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
L265fs frameshift loss of function - predicted PTEN L265fs results in a change in the amino acid sequence of the Pten protein beginning at aa 265 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). L265fs has not been characterized, however, other C-terminal deletion mutants downstream of L265 are inactivating (PMID: 10468583), thus L265fs is predicted to lead to a loss of Pten protein function.
V133I missense loss of function - predicted PTEN V133I lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). V133I is predicted to confer a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity in an in-vitro assay (PMID: 10866302).
L42R missense loss of function PTEN L42R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L42R demonstrates phosphatase activity comparable to wild-type Pten however, L42R results in reduced membrane localization of the Pten protein due to impaired binding with membrane lipids (PMID: 25448479, PMID: 25263454) and subsequently, is unable to prevent Akt signaling, cell proliferation, and cell migration and therefore, confers a loss of function to the Pten protein (PMID: 25263454).
S59* nonsense loss of function - predicted PTEN S59* results in a premature truncation of the Pten protein at amino acid 59 of 403 (UniProt.org). Due to the disruption of the phosphatase tensin-type domain and the loss of the C2 tensin-type domain, S59* is predicted to lead to a loss of Pten protein function (UniProt.org).
E285* nonsense loss of function - predicted PTEN E285* results in a premature truncation of the Pten protein at amino acid 285 of 403 (UniProt.org). E285* has not been characterized, however, other C-terminal deletion mutants downstream of E285 are inactivating (PMID: 10468583), thus E285* is predicted to lead to a loss of Pten protein function.
G165V missense loss of function - predicted PTEN G165V lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G165V is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
K267fs frameshift loss of function - predicted PTEN K267fs results in a change in the amino acid sequence of the Pten protein beginning at aa 267 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). K267fs has not been characterized, however, other C-terminal deletion mutants downstream of K267 are inactivating (PMID: 10468583), thus K267fs is predicted to lead to a loss of Pten protein function.
I168F missense no effect - predicted PTEN I168F lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). I168F demonstrates phosphatase activity similar to wild-type Pten in yeast (PMID: 21828076) and therefore, is predicted to have no effect on Pten protein function.
L112I missense unknown PTEN L112I lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L112I has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
K13Q missense loss of function - predicted PTEN K13Q lies within the polybasic N-terminal motif of the Pten protein (PMID: 14711368). K13Q is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity in cultured cells (PMID: 16088943).
D92A missense loss of function PTEN D92A lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D92A results in a loss of Pten phosphatase activity in yeast (PMID: 21828076) and demonstrates impaired dephosphorylation of FAK in cell culture (PMID: 10400703).
over exp unknown unknown PTEN over exp indicates an over expression of the Pten protein. However, the mechanism causing the over expression is unspecified.
R335G missense unknown PTEN R335G lies within the C2 tensin-type domain of the Pten protein (UniProt.org). R335G has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
C124Y missense unknown PTEN C124Y lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C124Y has been identified in sequencing studies (PMID: 12695913), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
S362L missense no effect - predicted PTEN S362L lies within the C2 tensin-type domain of the Pten protein (UniProt.org). S362L demonstrates inhibition of Akt phosphorylation similar to wild-type Pten in cell culture (PMID: 19329485) and therefore, is predicted to have no effect on Pten protein function.
Y176del deletion unknown PTEN Y176del results in the deletion of an amino acid within the phosphatase tensin-type domain of the Pten protein at amino acid 176 (UniProt.org). Y176del has been identified in sequencing studies (PMID: 9619835), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
Y177S missense unknown PTEN Y177S lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y177S has been identified in sequencing studies (PMID: 23917401), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
C124fs frameshift loss of function - predicted PTEN C124fs results in a change in the amino acid sequence of the Pten protein beginning at 124 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). C124fs has not been characterized, however, other C-terminal deletion mutants downstream of C124 are inactivating (PMID: 10468583), thus C124fs is predicted to lead to a loss of Pten protein function.
H93R missense unknown PTEN H93R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). The functional effect of H93R is conflicting, as H93R demonstrates phosphatase activity similar to wild-type Pten in yeast (PMID: 21828076), but in another study, H93R had decreased phosphatase activity (PMID: 29373119).
Y155C missense loss of function PTEN Y155C lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y155C confers a loss of function to the Pten protein as demonstrated by loss of phosphatase activity (PMID: 10866302, PMID: 27829222).
Y65* nonsense loss of function - predicted PTEN Y65* results in a premature truncation of the Pten protein at amino acid 65 of 403 within the phosphatase tensin-type domain (UniProt.org). Due to the disruption of the phosphatase tensin-type domain and the loss of the C2 tensin-type domain (UniProt.org), PTEN Y65* is predicted to lead to a loss of Pten protein function.
E288fs frameshift loss of function - predicted PTEN E288fs results in a change in the amino acid sequence of the Pten protein beginning at aa 288 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). E288fs has not been characterized, however, other C-terminal deletion mutants downstream of E288 are inactivating (PMID: 10468583), thus E288fs is predicted to lead to a loss of Pten protein function.
T131P missense unknown PTEN T131P lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). T131P has been identified in the scientific literature (PMID: 24630729, PMID: 17504928), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
S170N missense loss of function PTEN S170N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). S170N confers a loss of function to the Pten protein as demonstrated by loss of phosphatase activity (PMID: 10866302) and increased transformation ability in two different cell lines, as compared to wild-type Pten (PMID: 29533785).
K260* nonsense loss of function - predicted PTEN K260* results in a premature truncation of the Pten protein at amino acid 260 of 403 (UniProt.org). K260* has not been characterized, however other C-terminal deletion mutants downstream of K260 are inactivating (PMID: 10468583), thus K260* is predicted to lead to a loss of Pten protein function.
D331G missense unknown PTEN D331G lies within the C2 tensin-type domain of the Pten protein (UniProt.org). The functional effect of D331G is conflicting, as D331G has been reported to decrease Pten protein stability and has reduced phosphatase activity (PMID: 10866302), but demonstrates growth inhibition to a similar level as wild-type Pten in cell culture (PMID: 11156408).
M205I missense unknown PTEN M205I lies within the C2 tensin-type domain of the Pten protein (UniProt.org). M205I has been identified in the scientific literature (PMID: 11801303, PMID: 25126449), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
R173H missense unknown PTEN R173H lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). The effect of R173H on Pten protein function is conflicting as R173H results in a loss of Pten phosphatase activity in an in vitro assay (PMID: 10866302), but correlates with wild-type Pten phenotype in an in vivo tumor growth assay (PMID: 27147599).
H123L missense unknown PTEN H123L lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). H123L has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
Y86fs frameshift loss of function - predicted PTEN Y86fs results in a change in the amino acid sequence of the Pten protein beginning at aa 86 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the C2 tensin-type domain, Y86fs is predicted to result in a loss of Pten protein function (UniProt.org).
T131L missense loss of function - predicted PTEN T131L lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). T131L s predicted to confer a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
N12T missense loss of function - predicted PTEN N12T does not lie within any known functional domains of the Pten protein (UniProt.org). N12T has not been biochemically characterized, but is predicted to confer a loss of function on the Pten protein as demonstrated by increased transformation ability in two different cell lines, as compared to wild-type Pten (PMID: 29533785).
G165E missense loss of function - predicted PTEN G165E lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G165E is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
K62R missense loss of function PTEN K62R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). K62R confers a loss of function to the Pten protein, as demonstrated by reduced ATP-binding, increased cell proliferation, and cell transformation in culture (PMID: 19457929).
E288* nonsense loss of function - predicted PTEN E288* results in a premature truncation of the Pten protein at amino acid 288 of 403 (UniProt.org). E288*has not been characterized, however, other C-terminal deletion mutants downstream of E288 are inactivating (PMID: 10468583), thus E288* is predicted to lead to a loss of Pten protein function.
R159S missense unknown PTEN R159S lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R159S has been identified in the scientific literature (PMID: 17873882), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
L108_D109del deletion unknown PTEN L108_D109del results in the deletion of 2 amino acids in the phosphatase tensin-type domain of the Pten protein from amino acids 108 to 109 (UniProt.org). L108_D109del has been identified in sequencing studies (PMID: 18757403), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
A126S missense unknown PTEN A126S lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). The functional effect of A126S is conflicting, as A126S has been reported to result in decreased phosphatase activity of Pten, but is still able to inhibit Pi3k activation in yeast (PMID: 21828076).
G132V missense unknown PTEN G132V lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G132V has been identified in sequencing studies (PMID: 10096247), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
P96T missense unknown PTEN P96T lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). P96T has been identified in sequencing studies (PMID: 24132290), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
W111* nonsense loss of function - predicted PTEN W111* results in a premature truncation of the Pten protein at amino acid 111 of 533 within the phosphatase tensin-type domain (UniProt.org). Due to the disruption of the phosphatase tensin-type domain and the loss of C2 tensin-type domain (UniProt.org), W111* is predicted to lead to a loss of Pten protein function.
A126G missense loss of function PTEN A126G lies within the tensin-type phosphatase domain of the Pten protein (UniProt.org). A126G confers a loss of function to the Pten protein as demonstrated by a shift in substrate specificity of Pten from 3- to 5-phosphatase (PMID: 29987362), an inability to regulate Pi3k/Akt signaling, and increased cell proliferation and transformation in culture (PMID: 26504226).
E256* nonsense loss of function - predicted PTEN E256* results in a premature truncation of the Pten protein at amino acid 256 of 403 (UniProt.org). E256* has not been characterized, however, other C-terminal deletion mutants downstream of E256 are inactivating (PMID: 10468583), thus E256* is predicted to lead to a loss of Pten protein function.
Y65C missense loss of function PTEN Y65C lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y65C confers a loss of function to the Pten protein as demonstrated by reduced ATP-binding, nuclear accumulation (PMID: 20926450), increased cell proliferation, decreased apoptosis, and is transforming in culture (PMID: 19457929).
E299* nonsense loss of function - predicted PTEN E299* results in a premature truncation of the Pten protein at amino acid 299 of 403 (UniProt.org). E299* has not been characterized, however, other C-terminal deletion mutants downstream of E299 are inactivating (PMID: 10468583), thus E299* is predicted to lead to a loss of Pten protein function.
E284* nonsense loss of function - predicted PTEN E284* results in a premature truncation of the Pten protein at amino acid 284 of 403 (UniProt.org). E284* has not been characterized, however, other C-terminal deletion mutants downstream of E284 are inactivating (PMID: 10468583), thus, E284* is predicted to lead to a loss of Pten protein function.
K66fs frameshift loss of function - predicted PTEN K66fs results in a change in the amino acid sequence of the Pten protein beginning at aa 66 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the phosphatase tensin-type domain (UniProt.org), K66fs is predicted to lead to a loss of Pten function.
T131I missense loss of function - predicted PTEN T131I lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). T131I is predicted to confer a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
C105W missense unknown PTEN C105W lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C105W has been identified in the scientific literature (PMID: 19471547), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
E256K missense unknown PTEN E256K lies within the C2 tensin-type domain of the Pten protein (UniProt.org). E256K has been identified in sequencing studies (PMID: 20300775), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
H123D missense loss of function - predicted PTEN H123D lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). H123D is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
L108R missense unknown PTEN L108R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L108R has not been fully biochemically characterized, however, cell lines harboring PTEN L108R demonstrate decreased Pten expression and increased Akt phosphorylation (PMID: 10582703).
Y16C missense unknown PTEN Y16C lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y16C has been reported to retain wild-type phosphatase activity (PMID: 17213812), but does not suppress downstream Akt signaling (PMID: 21536651) and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
V217D missense loss of function - predicted PTEN V217D lies within the C2 tensin-type domain of the Pten protein (UniProt.org). V217D is predicted to confer a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
Y27fs frameshift loss of function - predicted PTEN Y27fs results in a change in the amino acid sequence of the PTEN protein beginning at aa 27 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), Y27fs is predicted to lead to a loss of Pten protein function.
H123Q missense loss of function - predicted PTEN H123Q lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). H123Q is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
M134L missense loss of function - predicted PTEN M134L lies within the phosphatase tesin-type domain of the Pten protein (UniProt.org). M134L is predicted to confer a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity (PMID: 10866302).
A121T missense unknown PTEN A121T lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). A121T has been identified in the scientific literature (PMID: 24336570), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
K289E missense unknown PTEN K289E lies within the C2 tensin-type domain of the Pten protein (UniProt.org). The functional effect of K289E is conflicting, as K289E has been reported to result in impaired nuclear import in cell culture (PMID: 17218261), but has growth suppression similar to wild-type Pten in cell culture (PMID: 11156408).
T160I missense loss of function - predicted PTEN T160I lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). T160I is predicted to confer a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
P95L missense loss of function - predicted PTEN P95L lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). P95L is predicted to confer a loss of phosphatase function to the Pten protein as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
C218* nonsense loss of function - predicted PTEN C218* results in a premature truncation within the C2 tensin-type domain of the Pten protein at amino acid 218 of 403 (UniProt.org). C218* has not been characterized, however other C-terminal deletion mutants downstream of C218 are inactivating (PMID: 10468583), thus C218* is predicted to lead to a loss of Pten protein function.
Y68C missense loss of function - predicted PTEN Y68C lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y68C is predicted to confer a loss of function to the Pten protein as demonstrated by a loss of phosphatase activity in an in-vitro assay (PMID: 10866302).
H118fs frameshift loss of function - predicted PTEN H118fs results in a change in the amino acid sequence of the Pten protein beginning at 118 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the C2 tensin-type domain (UniProt.org), H118fs is predicted to lead to a loss of Pten function.
V166Sfs*14 frameshift loss of function - predicted PTEN V166Sfs*14 indicates a shift in the reading frame starting at amino acid 166 and terminating 14 residues downstream causing a premature truncation of the 403 amino acid Pten protein (UniProt.org). V166Sfs*14 has not been biochemically characterized, but is predicted to confer a loss of function on the Pten protein as demonstrated by increased transformation ability in two different cell lines, as compared to wild-type Pten (PMID: 29533785).
F337fs frameshift loss of function - predicted PTEN F337fs results in a change in the amino acid sequence of the Pten protein beginning at 337 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). F337fs has not been characterized, however, other C-terminal deletion mutants downstream of F337 are inactivating (PMID: 10468583), thus F337fs is predicted to lead to a loss of Pten protein function.
N94I missense loss of function - predicted PTEN N94I lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). N94I is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
K6N missense unknown PTEN K6N does not lie within any known functional domains of the Pten protein (UniProt.org). K6N has not been biochemically characterized, however, overexpression of K6N correlates with the phenotype induced by wild-type Pten overexpression in an in vivo tumor formation assay (PMID: 27147599).
S10I missense unknown PTEN S10I lies within the polybasic N-terminal motif of the Pten protein (PMID: 14711368). S10I has been identified in sequencing studies (PMID: 19340001), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
I135K missense unknown PTEN I135K lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). I135K has been identified in sequencing studies (PMID: 22653804), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
P95Q missense unknown PTEN P95Q lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). P95Q has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
K128_R130del deletion loss of function PTEN K128_R130del results in the deletion of 3 amino acids in the phosphatase tensin-type domain of the Pten protein from amino acids 128 to 130 (UniProt.org). K128_R130del confers a loss of function on the Pten protein as indicated by failure to regulate glucose uptake and to dephosphorylate AKT in cell culture (PMID: 27829222).
R130fs frameshift loss of function - predicted PTEN R130fs results in a change in the amino acid sequence of the Pten protein beginning at aa 130 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). R130fs has not been characterized, however, other C-terminal deletion mutants downstream of R130 are inactivating (PMID: 10468583), thus R130fs is predicted to lead to a loss of Pten protein function.
C124R missense loss of function PTEN C124R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C124R results in a loss of Pten phosphatase activity and contributes to tumorigenesis in transgenic animal models (PMID: 10866302, PMID: 20194734).
S170I missense unknown PTEN S170I lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). S170I has been identified in the scientific literature (PMID: 27135926, PMID: 23066114), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
P246L missense no effect - predicted PTEN P246L lies within the C2 tensin-type domain of the Pten protein (UniProt.org). P246L demonstrates inhibition of Pi3k signaling to a similar level of wild-type Pten in yeast (PMID: 17942903) and therefore, is predicted to have no effect on Pten protein function.
P96L missense unknown PTEN P96L lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). P96L has been identified in sequencing studies (PMID: 18772396), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
Y174N missense loss of function - predicted PTEN Y174N lies within the phosphatase tesin-type domain of the Pten protein (UniProt.org). Y174N is predicted to confer a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity in an in-vitro assay (PMID: 10866302).
D331Tfs*13 frameshift loss of function - predicted PTEN D331Tfs*13 indicates a shift in the reading frame starting at amino acid 331 and terminating 13 residues downstream causing a premature truncation of the 403 amino acid Pten protein (UniProt.org). D331Tfs*13 has not been biochemically characterized, but is predicted to confer a loss of function on the Pten protein as demonstrated by increased transformation ability in two different cell lines, as compared to wild-type Pten (PMID: 29533785).
E291* nonsense loss of function - predicted PTEN E291* results in a premature truncation of the Pten protein at amino acid 291 of 403 (UniProt.org). E291* has not been characterized, however, other C-terminal deletion mutants downstream of E291 are inactivating (PMID: 10468583), thus E291* is predicted to lead to a loss of Pten protein function.
Q110* nonsense loss of function - predicted PTEN Q110* results in a premature truncation of the Pten protein at amino acid 110 of 403 (UniProt.org). Due to the loss of C2 tensin-type domain (UniProt.org), Q110* is predicted to lead to a loss of Pten function.
G36R missense loss of function - predicted PTEN G36R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G36R is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
R15I missense loss of function - predicted PTEN R15I lies within the phoshphatase tensin-type domain of the Pten protein (UniProt.org). R15I is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity and impaired nuclear localization in yeast (PMID: 25875300).
L325F missense loss of function - predicted PTEN L325F lies within the C2 tensin-type domain of the Pten protein (UniProt.org). L325F is predicted to confer a loss of function to the Pten protein as demonstrated by as demonstrated by loss of phosphatase activity through failure to inhibit Akt phosphorylation in cell culture (PMID: 19329485).
T131S missense no effect - predicted PTEN T131S lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). T131S demonstrates phosphatase activity similar to wild-type Pten in yeast (PMID: 21828076) and therefore, is predicted to have no effect on Pten protein function.
H61P missense unknown PTEN H61P lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). H61P has been identified in sequencing studies (PMID: 10653004), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
E284fs frameshift loss of function - predicted PTEN E284fs results in a change in the amino acid sequence of the Pten protein beginning at aa 284 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). E284fs has not been characterized, however other C-terminal deletion mutants downstream of E284 are inactivating (PMID: 10468583), thus E284fs is predicted to lead to a loss of Pten protein function.
D24N missense loss of function PTEN D24N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D24N retains phosphatase activity, but has aberrant nuclear localization and fails to inhibit Akt phosphorylation, cell proliferation, and transformation in cell culture (PMID: 17213812) and therefore, confers a loss of function to the Pten protein.
K125N missense loss of function - predicted PTEN K125N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). K125N is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity in cell culture (PMID: 25873899).
H61K missense unknown PTEN H61K lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). H61K has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
E235* nonsense loss of function - predicted PTEN E235* results in a premature truncation of the Pten protein at amino acid 235 of 403 (UniProt.org). E235* has not been characterized, however, other C-terminal deletion mutants downstream of E235 are inactivating (PMID: 10468583), thus E235* is predicted to lead to a loss of Pten protein function.
D116fs frameshift loss of function - predicted PTEN D116fs results in a change in the amino acid sequence of the Pten protein beginning at 116 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the C2 tensin-type domain (UniProt.org), D116fs is predicted to lead to a loss of Pten function.
K163fs frameshift loss of function - predicted PTEN K163fs results in a change in the amino acid sequence of the Pten protein beginning at aa 163 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). K163fs has not been characterized, however, other C-terminal deletion mutants downstream of K163 are inactivating (PMID: 10468583), thus K163fs is predicted to lead to a loss of Pten protein function.
Y68N missense unknown PTEN Y68N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y68N has been identified in the scientific literature (PMID: 24744697), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
R335* nonsense loss of function - predicted PTEN R335* results in a premature truncation of the Pten protein at amino acid 335 of 403 within the C2 tensin-type domain (UniProt.org). R335* has not been biochemically characterized, but is predicted to confer a loss of function on the Pten protein as demonstrated by increased transformation ability in two different cell lines, as compared to wild-type Pten (PMID: 29533785).
D92N missense no effect - predicted PTEN D92N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D92N demonstrates phosphatase activity similar to wild-type Pten in yeast (PMID: 21828076) and therefore, is predicted to have no effect on Pten protein function.
H61R missense loss of function - predicted PTEN H61R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). H61R is predicted to confer a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity in an in-vitro assay (PMID: 10866302).
L23F missense loss of function PTEN L23F lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L23F retains phosphatase activity, but results in nuclear accumulation of Pten and failure to inhibit Akt phosphorylation and cell proliferation in culture (PMID: 17213812) and therefore, confers a loss of function to the Pten protein.
P96S missense unknown PTEN P96S lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). P96S has been identified in the scientific literature (PMID: 22653804, PMID: 24468202), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
R14G missense unknown PTEN R14G lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R14G has been identified in sequencing studies (PMID: 25527629), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
F56fs frameshift loss of function - predicted PTEN F56fs results in a change in the amino acid sequence of the Pten protein beginning at aa 56 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), F56fs is predicted to lead to a loss of Pten protein function.
G129* nonsense loss of function - predicted PTEN G129* results in a premature truncation of the Pten protein at amino acid 129 of 403 (UniProt.org). Due to the loss of C2 tensin-type domain (UniProt.org), G129* is predicted to lead to a loss of Pten function.
H123Y missense loss of function PTEN H123Y lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). H123Y confers a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity (PMID: 9256433, PMID: 11448956) and increased Akt activation and cell survival in culture (PMID: 11448956).
L112V missense unknown PTEN L112V lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L112V has been identified in the scientific literature (PMID: 10560660, PMID: 18669439), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
L325R missense loss of function - predicted PTEN L325R lies within the C2 tensin-type domain of the Pten protein (UniProt.org). L325R has not been biochemically characterized, but is predicted to confer a loss of function on the Pten protein as demonstrated by increased transformation ability in two different cell lines, as compared to wild-type Pten (PMID: 29533785).
loss unknown loss of function PTEN loss indicates a loss of the PTEN gene, mRNA, and protein.
C124F missense unknown PTEN C124F lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C124F has been identified in sequencing studies (PMID: 25344691, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
G251D missense loss of function - predicted PTEN G251D lies within the C2 tensin-type domain of the Pten protein (UniProt.org). G251D has not been biochemically characterized, but is associated with decreased Pten protein level and increased phosphorylation of Akt and S6 in patient tumor sample (PMID: 25003235) and therefore, is predicted to confer a loss of function to the Pten protein.
A126T missense unknown PTEN A126T lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). A126T has been identified in sequencing studies (PMID: 26517354, PMID: 22807394), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
R130A missense loss of function - predicted PTEN R130A lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R130A is predicted to confer a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
F90S missense loss of function PTEN F90S lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). F90S demonstrates phosphatase activity comparable to wild-type Pten however, F90S results in reduced membrane localization of the Pten protein due to impaired binding with membrane lipids (PMID: 25448479, PMID: 25263454) and subsequently, is unable to prevent Akt signaling, cell proliferation, and cell migration and therefore, confers a loss of function to the Pten protein (PMID: 25263454).
D252Y missense loss of function - predicted PTEN D252Y lies within the C2 tensin-type domain of the Pten protein (UniProt.org). D252Y leads to reduced stability of the Pten protein in cell culture, resulting in decreased expression and thus, is predicted to result in a loss of Pten protein function (PMID: 17942903).
D92V missense loss of function - predicted PTEN D92V lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D92V is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
L247_P248del missense loss of function - predicted PTEN L247_P248del results in the deletion of two amino acids in the Pten protein from amino acids 247 to 248 (UniProt.org). L247_P248del has not been biochemically characterized, but is predicted to confer a loss of function on the Pten protein as demonstrated by increased transformation ability in two different cell lines, as compared to wild-type Pten (PMID: 29533785).
D162G missense no effect - predicted PTEN D162G lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D162G demonstrates phosphatase activity similar to wild type Pten in yeast (PMID: 21828076) and therefore, is predicted to have no effect on Pten protein function.
I122L missense loss of function - predicted PTEN I122L lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). I122L is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
E307K missense unknown PTEN E307K lies within the C2 tensin-type domain of the Pten protein (UniProt.org). E307K results in similar phosphatase activity as wild-type Pten, but leads to increased polyubiquitination and membrane localization and decreased nuclear localization of Pten in cell culture (PMID: 22103913) and therefore, its effect on Pten protein function is unknown.
K128Q missense loss of function - predicted PTEN K128Q lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). K128Q is predicted to confer a loss of phosphatase function to the Pten protein as demonstrated by increased Akt phosphorylation in cell culture (PMID: 16829519).
K128R missense no effect PTEN K128R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). K128R demonstrates inhibition of Akt phosphorylation at similar levels of wild-type Pten in cell culture (PMID: 16829519, PMID: 29739874) and therefore, has no effect on Pten protein function.
Q17* nonsense loss of function - predicted PTEN Q17* results in a premature truncation of the Pten protein at amino acid 17 of 403 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q17* is predicted to lead to a loss of Pten function.
L152P missense unknown PTEN L152P lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L152P has been identified in sequencing studies (PMID: 22941189), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
R130G missense loss of function PTEN R130G lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R130G confers a loss of function to the Pten protein as demonstrated by loss of phosphatase activity (PMID: 11051241, PMID: 10866302) and increased transformation ability in two different cell lines, as compared to wild-type Pten (PMID: 29533785).
V369G missense no effect - predicted PTEN V369G does not lie within any known functional domains of the Pten protein (UniProt.org). V369G demonstrates phosphatase activity similar to wild-type Pten in an in-vitro assay (PMID: 10866302) and therefore, is predicted to have no effect on Pten protein function.
P95S missense loss of function - predicted PTEN P95S lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). P95S is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity through failure to inhibit Akt phosphorylation in cell culture (PMID: 19329485).
K60N missense unknown PTEN K60N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). K60N has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Feb 2018).
A79T missense no effect - predicted PTEN A79T lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). A79T has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Pten (PMID: 29533785) and therefore, is predicted to have no effect on Pten protein function.
R173P missense loss of function - predicted PTEN R173P lies within the phosphatase tesin-type domain of the Pten protein (UniProt.org). R173P is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity in an in-vitro assay (PMID: 10866302).
C136R missense loss of function PTEN C136R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C136R confers a loss of function on the Pten protein as demonstrated by increased proteasome-mediated degradation of Pten protein, activation of Akt and Erk signaling in cell culture (PMID: 23475934), and by increased transformation ability in two different cell lines, as compared to wild-type Pten (PMID: 29533785).
D92E missense loss of function - predicted PTEN D92E lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D92E is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
Q245* nonsense loss of function - predicted PTEN Q245* results in a premature truncation of the Pten protein at amino acid 245 of 403 within the C2 tensin-type domain (UniProt.org). Q245* has not been characterized, however other C-terminal deletion mutants downstream of Q245 are inactivating (PMID: 10468583), thus Q245* is predicted to lead to a loss of Pten protein function.
I253N missense unknown PTEN I253N lies within the C2 tensin-type domain of the Pten protein (UniProt.org). I253N has been identified in the scientific literature (PMID: 18953432, PMID: 26561558), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
Y46C missense unknown PTEN Y46C lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y46C has been identified in sequencing studies (PMID: 20530683), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
K289Nfs*8 frameshift loss of function - predicted PTEN K289Nfs*8 indicates a shift in the reading frame starting at amino acid 289 and terminating 8 residues downstream causing a premature truncation of the 403 amino acid Pten protein (UniProt.org). K289Nfs*8 has not been characterized, however, due to the effects of other deletion downstream of K289 (PMID: 10468583), K289Nfs*8 is predicted to lead to a loss of Pten protein function.
A121V missense no effect - predicted PTEN A121V lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). A121V demonstrates phosphatase activity similar to wild-type Pten in yeast (PMID: 21828076) and therefore, is predicted to have no effect on the Pten protein function.
M35R missense loss of function PTEN M35R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). M35R confers a loss of function to the Pten protein as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076, PMID: 17942903).
A126D missense loss of function - predicted PTEN A126D lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). A126D is predicted to confer a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076) and is also predicted to be associated with homologous recombination deficiency (PMID: 29246904).
A126P missense unknown PTEN A126P lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). A126P has been identified in the scientific literature (PMID: 26504226), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
G251V missense loss of function - predicted PTEN G251V lies within the C2 tensin-type domain of the Pten protein (UniProt.org). G251V has not been biochemically characterized, but is predicted to confer a loss of function on the Pten protein as demonstrated by increased transformation ability as compared to wild-type Pten (PMID: 29533785).
E291K missense unknown PTEN E291K lies within the C2 tensin-type domain of the Pten protein (UniProt.org). E291K has been identified in sequencing studies (PMID: 15923161), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
R173C missense loss of function PTEN R173C lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R173C confers a loss of function to the Pten protein as demonstrated by loss of phosphatase activity (PMID: 10866302) and increased transformation ability in two different cell lines, as compared to wild-type Pten (PMID: 29533785).
C211Y missense unknown PTEN C211Y lies within the C2 tensin-type domain of the Pten protein (UniProt.org). C211Y has been identified in the scientific literature (PMID: 28027320), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
A120T missense unknown PTEN A120T lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). A120T has been identified in sequencing studies (PMID: 23633456, PMID: 25424851), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
P248H missense unknown PTEN P248H lies within the C2 tensin-type domain of the Pten protein (UniProt.org). P248H has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
K125* nonsense loss of function - predicted PTEN K125* results in a premature truncation of the Pten protein at amino acid 125 of 403 (UniProt.org). K125* has not been characterized, however, other C-terminal deletion mutants downstream of K125 are inactivating (PMID: 10468583), thus K125* is predicted to lead to a loss of Pten protein function.
A121P missense loss of function - predicted PTEN A121P lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). A121P is predicted to confer a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity in an in-vitro assay (PMID: 10866302).
K128N missense unknown PTEN K128N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). The functional effect of K128N is conflicting, as K128N has been reported to result in decreased Pten phosphatase activity, but is able to inhibit Pi3k activation in yeast (PMID: 21828076).
G156R missense unknown PTEN G156R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G156R has been identified in sequencing studies (PMID: 11123721), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
G293fs frameshift loss of function - predicted PTEN G293fs results in a change in the amino acid sequence of the Pten protein beginning at 293 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). G293fs has not been characterized, however, other C-terminal deletion mutants downstream of G293 are inactivating (PMID: 10468583), thus G293fs is predicted to lead to a loss of Pten protein function.
K66E missense unknown PTEN K66E lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). K66E has been identified in sequencing studies (PMID: 21103049, PMID: 29575851), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
C105Y missense unknown PTEN C105Y lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C105Y has been identified in the scientific literature (PMID: 15987703), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
G165R missense loss of function - predicted PTEN G165R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G165R is predicted to confer a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity in an in-vitro assay (PMID: 10866302).
N48I missense unknown PTEN N48I lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). N48I has been identified in the scientific literature (PMID: 11108659, PMID: 28808038), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
H118P missense loss of function PTEN H118P lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). H118P is confers a loss of function to the Pten protein as demonstrated by moderate loss of phosphatase activity in yeast (PMID: 21828076) and in an in-vitro assay, along with high protein instability (PMID: 25527629).
Y174D missense unknown PTEN Y174D lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y174D has been identified in sequencing studies (PMID: 22842228), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
R130P missense unknown PTEN R130P lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R130P has been identified in sequencing studies (PMID: 23949151, PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Sep 2018).
C71Y missense loss of function - predicted PTEN C71Y lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C71Y is predicted to confer a loss of function to the Pten protein, as demonstrated loss of phosphatase activity in an in-vitro assay (PMID: 11051241).
L70H missense unknown PTEN L70H lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L70H has been identified in sequencing studies (PMID: 26831717), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
R233Q missense no effect - predicted PTEN R233Q lies within the C2 tensin-type domain of the Pten protein (UniProt.org). R233Q has not been biochemically characterized, however, R233Q induces a similar gene expression signature as wild-type Pten in cell culture (PMID: 27147599) and therefore, is predicted to have no effect on Pten protein function.
V343E missense loss of function PTEN V343E lies within the C2 tensin-type domain of the Pten protein (UniProt.org). V343E confers a loss of function to the Pten protein as demonstrated by loss of phosphatase activity (PMID: 10866302) and the inability to bind the Pten interacting protein, PICT-1 (PMID: 15355975).
E256Q missense unknown PTEN E256Q lies within the C2 tensin-type domain of the Pten protein (UniProt.org). E256Q has been identified in sequencing studies (PMID: 23633456), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
F21A missense loss of function PTEN F21A lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). F21A retains lipid phosphatase activity (PMID: 25875300, PMID: 17213812), but aberrantly localizes to the nucleus and fails to inhibit Akt phosphorylation and cell proliferation in culture (PMID: 17213812) and therefore, confers a loss of function on the Pten protein.
P246fs frameshift loss of function - predicted PTEN P246fs results in a change in the amino acid sequence of the Pten protein beginning at aa 246 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). P246fs has not been characterized, however, other C-terminal deletion mutants downstream of P246 are inactivating (PMID: 10468583), thus P246fs is predicted to lead to a loss of Pten protein function.
L70fs frameshift loss of function - predicted PTEN L70fs results in a change in the amino acid sequence of the Pten protein beginning at aa 70 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). L70fs has not been characterized, however other C-terminal deletion mutants downstream of L70 are inactivating (PMID: 10468583), thus L70fs is predicted to lead to a loss of Pten protein function.
S170R missense loss of function - predicted PTEN S170R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). S170R is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity (PMID: 10866302).
C136Y missense loss of function - predicted PTEN C136Y lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C136Y is predicted to confer a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity in an in-vitro assay (PMID: 10866302).
Q171E missense unknown PTEN Q171E lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Q171E has been identified in sequencing studies (PMID: 25527629, PMID: 25185240), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
E242* nonsense loss of function - predicted PTEN E242* results in a premature truncation of the Pten protein at amino acid 242 of 403 (UniProt.org). E242*has not been characterized, however, other C-terminal deletion mutants downstream of E242 are inactivating (PMID: 10468583), thus E242* is predicted to lead to a loss of Pten protein function.
wild-type none no effect Wild-type PTEN indicates that no mutation has been detected within the PTEN gene.
L182fs frameshift loss of function - predicted PTEN L182fs results in a change in the amino acid sequence of the Pten protein beginning at aa 182 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). L182fs has not been characterized, however, other C-terminal deletion mutants downstream of L182 are inactivating (PMID: 10468583), thus L182fs is predicted to lead to a loss of Pten protein function.
R173fs frameshift loss of function - predicted PTEN R173fs results in a change in the amino acid sequence of the Pten protein beginning at aa 173 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). R173fs has not been characterized, however C-terminal deletion mutants downstream of R173 are inactivating (PMID: 10468583), thus R173fs is predicted to lead to a loss of Pten protein function.
C105G missense unknown PTEN C105G lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C105G has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
E285K missense unknown PTEN E285K lies within the C2 tensin-type domain of the Pten protein (UniProt.org). E285K has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
S59L missense unknown PTEN S59L lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). S59L has been identified in sequencing studies (PMID: 19962665), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
C136F missense loss of function - predicted PTEN C136F lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C136F has not been biochemically characterized, but is predicted to confer a loss of function on the Pten protein as demonstrated by increased transformation ability in two different cell lines, as compared to wild-type Pten (PMID: 29533785).
N329fs frameshift loss of function - predicted PTEN N329fs results in a change in the amino acid sequence of the Pten protein beginning at aa 329 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). N329fs has not been characterized, however, other C-terminal deletion mutants downstream of N329 are inactivating (PMID: 10468583), thus N329fs is predicted to lead to a loss of Pten protein function.
A126V missense loss of function - predicted PTEN A126V lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). A126V is predicted to confer a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
C124N missense loss of function - predicted PTEN C124N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C124N is predicted to confer a loss of function to the Pten protein, as demonstrated by loss of Pten phosphatase activity in yeast (PMID: 21828076).
K254Rfs*42 missense loss of function - predicted PTEN K254Rfs*42 indicates a shift in the reading frame starting at amino acid 254 and terminating 42 residues downstream causing a premature truncation of the 403 amino acid Pten protein (UniProt.org). K254Rfs*42 has not been biochemically characterized, but is predicted to confer a loss of function on the Pten protein as demonstrated by increased transformation ability in two different cell lines, as compared to wild-type Pten (PMID: 29533785).
C105F missense loss of function PTEN C105F lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C105F results in a loss of Pten phosphatase activity and is unable to suppress cell proliferation in culture (PMID: 9823298).
G20E missense loss of function PTEN G20E lies within the phosphatase tesin-type domain of the Pten protein (UniProt.org). G20E retains some, if not all, phosphatase activity as compared to wild-type Pten (PMID: 10866302, PMID: 25263454, PMID: 17213812), however, G20E results in reduced membrane localization of the Pten protein due to impaired binding with membrane lipids, and subsequently, is unable to prevent Akt signaling, cell proliferation (PMID: 17213812), and cell migration and therefore, confers a loss of function to the Pten protein (PMID: 25263454).
N292fs frameshift loss of function - predicted PTEN N292fs results in a change in the amino acid sequence of the Pten protein beginning at aa 292 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). N292fs has not been characterized, however other C-terminal deletion mutants downstream of N292 are inactivating (PMID: 10468583), thus N292fs is predicted to lead to a loss of Pten protein function.
Y176* nonsense loss of function - predicted PTEN Y176* results in a premature truncation of the Pten protein at amino acid 176 of 403 (UniProt.org). Y176* has not been characterized, however, other C-terminal deletion mutants downstream of Y176 are inactivating (PMID: 10468583), thus Y176* is predicted to lead to a loss of Pten protein function.
K6fs frameshift loss of function - predicted PTEN K6fs results in a change in the amino acid sequence of the Pten protein beginning at aa 6 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), K6fs is predicted to lead to a loss of Pten function.
T167A missense unknown PTEN T167A lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). T176A may have partial loss of phosphatase activity in yeast (PMID: 21828076) and therefore, its effect on Pten protein function is unknown (PubMed, Sep 2018).
Y138L missense loss of function - predicted PTEN Y138L lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y138L is predicted to confer a loss of function to the Pten protein, as demonstrated by loss of protein phosphatase activity, even though it retains lipid phosphatase activity, in cell culture (PMID: 22413754).
K60T missense unknown PTEN K60T lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). K60T has been identified in the scientific literature (PMID: 24647592), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
D107H missense unknown PTEN D107H lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D107H has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
E242K missense unknown PTEN E242K lies within the C2 tensin-type domain of the Pten protein (UniProt.org). E242K has been identified in sequencing studies (PMID: 15069681), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
P38S missense unknown PTEN P38S lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). P38S has been identified in the scientific literature (PMID: 15195137), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
Y68fs frameshift loss of function - predicted PTEN Y68fs results in a change in the amino acid sequence of the PTEN protein beginning at aa 68 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the C2 tensin-type domain (UniProt.org), Y68fs is predicted to lead to a loss of Pten function.
V290* nonsense loss of function - predicted PTEN V290* results in a premature truncation of the Pten protein at amino acid 290 of 403 (UniProt.org). V290* has not been characterized, however, other C-terminal deletion mutants downstream of V290 are inactivating (PMID: 10468583), thus V290* is predicted to lead to a loss of Pten protein function.
Q261* nonsense loss of function - predicted PTEN Q261* results in a premature truncation of the Pten protein at amino acid 261 of 403 within the C2 tensin-type domain (UniProt.org). Q261* is predicted to confer a loss of function to the Pten protein as demonstrated by decreased protein levels and increased phosphorylation of Akt and S6 in a patient tumor sample (PMID: 25003235).
V158fs frameshift loss of function - predicted PTEN V158fs results in a change in the amino acid sequence of the Pten protein beginning at aa 158 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). V158fs has not been characterized, however, other C-terminal deletion mutants downstream of V158 are inactivating (PMID: 10468583), and thus, V158fs is predicted to lead to a loss of Pten protein function.
Y27S missense loss of function PTEN Y27S lies within the phosphatase tesin-type domain of the Pten protein (UniProt.org). Y27S is predicted to confer a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity in an in-vitro assay (PMID: 10866302).
I67T missense unknown PTEN I67T lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). I67T has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
L57W missense loss of function PTEN L57W lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L57W confers a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity (PMID: 9256433, PMID: 9356475) and is unable to inhibit cell proliferation in culture (PMID: 9356475).
G132D missense unknown PTEN G132D lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G132D has been identified in sequencing studies (PMID: 25527629, PMID: 26919320), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
P169H missense no effect - predicted PTEN P169H lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). P169H demonstrates phosphatase activity similar to wild-type Pten in yeast (PMID: 21828076) and therefore, is predicted to have no effect on Pten protein function.
Q171* nonsense loss of function - predicted PTEN Q171* results in a premature truncation of the Pten protein at amino acid 171 of 403 (UniProt.org). Due to the loss of C2 tensin-type domain (UniProt.org), Q171* is predicted to lead to a loss of Pten function (PMID: 28349114).
F347L missense loss of function - predicted PTEN F347L lies within the C2 tensin-type domain of the Pten protein (UniProt.org). F347L is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity (PMID: 10866302).
P213S missense unknown PTEN P213S lies within the C2 tensin-type domain of the Pten protein (UniProt.org). P213S has been identified in the scientific literature (PMID: 18953432), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
S10N missense loss of function PTEN S10N lies within the lipid binding domain of the Pten protein (PMID: 25263454). S10N demonstrates phosphatase activity comparable to wild-type Pten (PMID: 10468583, PMID: 25263454), however, S10N results in reduced membrane localization of the Pten protein due to impaired binding with membrane lipids, and subsequently, is unable to prevent Akt signaling, cell proliferation, and cell migration and therefore, confers a loss of function to the Pten protein (PMID: 25263454, PMID: 17213812).
K342N missense no effect - predicted PTEN K342N lies within the C2 tensin-type domain of the Pten protein (UniProt.org). K342N demonstrates phosphatase activity similar to wild-type Pten in an in-vitro assay (PMID: 10866302) and therefore, is predicted to have no effect on Pten protein function.
M134I missense unknown PTEN M134I lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). M134I has been identified in sequencing studies (PMID: 25527629, PMID: 23674493), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
R233* nonsense loss of function - predicted PTEN R233* results in a premature truncation of the Pten protein at amino acid 233 of 403 (UniProt.org). R233* has not been biochemically characterized, but is predicted to confer a loss of function on the Pten protein (PMID: 28349114), as demonstrated by increased transformation of two different cell lines, as compared to wild-type Pten (PMID: 29533785).
mutant unknown unknown PTEN mutant indicates an unspecified mutation in the PTEN gene.
E201* nonsense loss of function - predicted PTEN E201*results in a premature truncation of the Pten protein at amino acid 201 of 403 (UniProt.org). Due to the loss of C2 tensin-type domain (UniProt.org), E201* is predicted to lead to a loss of Pten function.
G132C missense unknown PTEN G132C lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G132C has been identified in sequencing studies (PMID: 23444215), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2018).
H61L missense unknown PTEN H61L lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). H61L has been identified in sequencing studies (PMID: 10092130), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Aug 2018).
I122S missense loss of function - predicted PTEN I122S lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). I122S is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
G129A missense no effect - predicted PTEN G129A lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G129A demonstrates phosphatase activity similar to wild-type Pten in yeast (PMID: 21828076) and therefore, is predicted to have no effect on Pten protein function.
C136W missense unknown PTEN C136W lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C136W has been identified in sequencing studies (PMID: 24425785), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
P283L missense unknown PTEN P283L lies within the C2 tensin-type domain of the Pten protein (UniProt.org). P283L has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
Q110R missense no effect - predicted PTEN Q110R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Q110R demonstrates inhibition of Akt phosphorylation similar to wild-type Pten in cell culture (PMID: 19329485) and therefore, is predicted to have no effect on Pten protein function.
E7* nonsense loss of function - predicted PTEN E7* results in a premature truncation of the Pten protein at amino acid 7 of 403 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E7* is predicted to lead to a loss of Pten function.
dec exp unknown no effect PTEN dec exp indicates decreased expression of the PTEN protein. However, the mechanism causing the decreased expression is unspecified.
G127V missense loss of function - predicted PTEN G127V lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G127V is predicted to confer a loss of function on the Pten protein based on behaving similar to Pten loss of function mutation, G129E (PMID: 27147599).
N69D missense unknown PTEN N69D lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). N69D has been identified in the scientific literature (PMID: 26362251, PMID: 26561558), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
T319del deletion loss of function PTEN T319del results in the deletion of an amino acid within the C2 tensin-type domain of the Pten protein at amino acid 319 (UniProt.org). T319del confers a loss of function to the Pten protein as demonstrated by increased protein turnover and decreased phosphatase activity (PMID: 10468583).
V175A missense unknown PTEN V175A lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). V175A has been identified in the scientific literature (PMID: 27494611), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
L57S missense unknown PTEN L57S lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L57S has been identified in sequencing studies (PMID: 11438483), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
R15K missense loss of function - predicted PTEN R15K lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R15K is predicted to confer a loss of function to the Pten protein, as demonstrated by a loss of phosphatase activity, although nuclear localization is similar to wild-type in cell culture (PMID: 25875300).
G127E missense loss of function - predicted PTEN G127E lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G127E is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
K263* nonsense loss of function - predicted PTEN K263* results in a premature truncation of the Pten protein at amino acid 263 of 403 (UniProt.org). K263* has not been characterized, however, other C-terminal deletion mutants downstream of K263 are inactivating (PMID: 10468583), thus K263* is predicted to lead to a loss of Pten protein function.
R130L missense loss of function PTEN R130L lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R130L confers a loss of function to the Pten protein as demonstrated by loss of phosphatase activity (PMID: 10866302, PMID: 25527629).
A121E missense loss of function - predicted PTEN A121E lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). A121E is predicted to confer a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
R130K missense loss of function - predicted PTEN R130K lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R130K is predicted to confer a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
V54fs missense loss of function - predicted PTEN V54fs results in a change in the amino acid sequence of the Braf protein beginning at aa 54 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). V54fs has not been characterized, however, other mutants downstream of V54 are inactivating (PMID: 10468583), thus V54fs is predicted to lead to a loss of Pten protein function.
Y177F missense unknown PTEN Y177F lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y177F has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
Q17del deletion unknown PTEN Q17del results in the deletion of an amino acid in the phosphatase tensin-type domain of the Pten protein at amino acid 17 (UniProt.org). Q17del has been identified in sequencing studies (PMID: 22588880), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
D331fs frameshift loss of function - predicted PTEN D331fs results in a change in the amino acid sequence of the Pten protein beginning at 331 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). D331fs has not been characterized, however, other C-terminal deletion mutants downstream of D331 are inactivating (PMID: 10468583), thus D331fs is predicted to lead to a loss of Pten protein function.
E242fs frameshift loss of function - predicted PTEN E242fs results in a change in the amino acid sequence of the Pten protein beginning at 242 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). E242fs has not been characterized, however, other C-terminal deletion mutants downstream of E242 are inactivating (PMID: 10468583), thus E242fs is predicted to lead to a loss of Pten protein function.
Y88C missense no effect - predicted PTEN Y88C lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y88C is predicted to have no effect on Pten protein function as indicated by lipid phosphatase activity similar to wild-type Pten in yeast (PMID: 21828076).
F56S missense unknown PTEN F56S lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). F56S has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
D326N missense loss of function PTEN D326N lies within the C2 tensin-type domain of the Pten protein (UniProt.org). D326N results in moderately decreased phosphatase activity of Pten in yeast (PMID: 21828076) and is unstable as compared to wild-type (PMID: 25527629).
P339S missense unknown PTEN P339S lies within the C2 tensin-type domain of the Pten protein (UniProt.org). P339S has been identified in the scientific literature (PMID: 26645239), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
S338T missense unknown PTEN S338T lies within the C2 tensin-type domain of the Pten protein (UniProt.org). S338T has been identified in sequencing studies (PMID: 11555573), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
G251S missense unknown PTEN G251S lies within the C2 tensin-type domain of the Pten protein (UniProt.org). G251S has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
L112P missense loss of function PTEN L112P lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L112P results in a loss of Pten phosphatase activity and is unable to suppress Akt activation in cell culture (PMID: 10866302, PMID: 25527629).
Y16fs frameshift loss of function - predicted PTEN Y16fs results in a change in the amino acid sequence of the PTEN protein beginning at aa 16 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the phosphatase tensin-type domain (UniProt.org), Y16fs is predicted to lead to a loss of Pten function.
negative unknown loss of function PTEN negative indicates a lack of the PTEN gene, mRNA, or protein.
F241S missense loss of function PTEN F241S lies within the C2 tensin-type domain of the Pten protein (UniProt.org). F241S confers a loss of function to the Pten protein as demonstrated by loss of phosphatase activity (PMID: 21828076, PMID: 29373119) and decreased nuclear localization (PMID: 29373119).
N323T missense unknown PTEN N323T lies within the C2 tensin-type domain of the Pten protein (UniProt.org). N323T has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
L318fs frameshift loss of function - predicted PTEN L318fs results in a change in the amino acid sequence of the Pten protein beginning at aa 318 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). L318fs has not been characterized, however, other C-terminal deletion mutants downstream of L318 are inactivating (PMID: 10468583), thus L318fs is predicted to lead to a loss of Pten protein function.
G251_D252del deletion unknown PTEN G251_D252del results in the deletion of two amino acids in the C2 tensin-type domain of the Pten protein from amino acids 251 to 252 (UniProt.org). G251_D252del has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
P248L missense unknown PTEN P248L lies within the C2 tensin-type domain of the Pten protein (UniProt.org). P248L has been identified in the scientific literature (PMID: 25495427), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
K66Q missense unknown PTEN K66Q lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). K66Q has been identified in sequencing studies (PMID: 10851265), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
Q298fs frameshift loss of function - predicted PTEN Q298fs results in a change in the amino acid sequence of the Pten protein beginning at aa 298 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). Q298fs has not been characterized, however, other C-terminal deletion mutants downstream of Q298 are inactivating (PMID: 10468583), thus Q298fs is predicted to lead to a loss of Pten protein function.
E157G missense loss of function - predicted PTEN E157G lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). E157G is predicted to confer a loss of function to the Pten protein as demonstrated by a moderate decrease phosphatase activity in yeast (PMID: 21828076).
K13E missense loss of function PTEN K13E lies within the polybasic N-terminal motif of the Pten protein (PMID: 14711368). K13E has phosphatase activity similar to wild-type Pten, but fails to translocate into the nucleus, and is unable to inhibit Akt activation and cell proliferation in culture (PMID: 14711368, PMID: 17213812) and therefore, confers a loss of function to the Pten protein.
R47M missense unknown PTEN R47M lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R47M has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2018).
D162H missense no effect PTEN D162H lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D162H demonstrates protein stability and inhibition of Akt signaling, similar to levels of wild-type Pten protein in cell culture (PMID: 23840064).
M199del deletion loss of function - predicted PTEN M199del results in the deletion of one amino acid in the phosphatase tensin-type domain of the Pten protein at amino acid 199 (UniProt.org). M199del is predicted to confer a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity in an in-vitro assay (PMID: 11051241).
T401I missense loss of function - predicted PTEN T401I does not lie within any known functional domains of the Pten protein (UniProt.org). T401I demonstrates phosphatase activity similar to wild-type Pten in an in-vitro assay (PMID: 10866302), but has impaired regulation of Glut1 plasma membrane expression and glucose uptake (PMID: 29117568), and therefore, is predicted to confer a loss of function to the Pten protein.
V290fs frameshift loss of function - predicted PTEN V290fs results in a change in the amino acid sequence of the PTEN protein beginning at aa 290 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). V290fs has not been characterized, however, other C-terminal deletion mutants downstream of V290 are inactivating (PMID: 10468583), thus Q290fs is predicted to lead to a loss of Pten protein function.
G127N missense loss of function - predicted PTEN G127N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G127N is predicted to confer a loss of function to the Pten protein as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076).
N276S missense loss of function - predicted PTEN N276S lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). N276S has been reported to demonstrate phosphatase activity similar to wild-type Pten in yeast (PMID: 21828076), but is highly unstable (PMID: 25527629) and is unable to localize to the nucleus (PMID: 29373119) and therefore, is predicted to confer a loss of function to the Pten protein.
W274fs frameshift loss of function - predicted PTEN W274fs results in a change in the amino acid sequence of the Pten protein beginning at aa 274 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). W274fs has not been characterized, however, other C-terminal deletion mutants downstream of W274 are inactivating (PMID: 10468583), and thus, W274fs is predicted to lead to a loss of Pten protein function.
Molecular Profile Protein Effect Treatment Approaches
PTEN D24V unknown
PTEN D92H loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN G44D loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN Q110K unknown
PTEN V119K unknown
PTEN Q214* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN A39P loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN C250fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN D252V unknown
PTEN K254fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN N323fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN I122fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN Q219* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN R130* loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN I253T unknown
PTEN V275* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN Y68H loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN D252G unknown Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN T131fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN R15S loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN K13* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN L112R loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN Y155fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN K125L loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN Q399* unknown
PTEN A72fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN R14fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN K60fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN G293V unknown
PTEN K322E unknown
PTEN K128T loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN P96Q loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN Q298* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN R130Q loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
FGFR2 N550K PIK3CA I20M PIK3CA P539R PTEN R130Q PTEN T321fs
BRAF mut PTEN inact mut
PIK3CA D1029Y PTEN inact mut
PTEN inact mut loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
APC inact mut KRAS G12D PTEN inact mut
APC inact mut PTEN inact mut
PIK3CA wild-type PTEN inact mut
PTEN R308C unknown
EGFR amp EGFR act mut PTEN R308C
PTEN R335L loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN L108P loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN C105S unknown
PTEN Y177C unknown
PTEN D107N unknown
PTEN L193fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
GNAQ Q209L PTEN R173S
PTEN R173S unknown
PTEN S294fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN K125E loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN D24Y loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
AKT1 Q79K BRAF V600X PTEN pos
PTEN positive unknown
AKT1 E17K BRAF V600X PTEN pos
PTEN pos KRAS G12D
PTEN R161G loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN D107Y loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN F56V unknown
PTEN G132S unknown Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN D92G loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN D301N no effect - predicted
PTEN D24G loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN L57fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN Y27D loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN F341V loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN G165* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN G251C loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN L181P loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN H93Y loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN G129E loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN L345Q loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PIK3CA wild-type PTEN R55fs
PTEN R55fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN S287* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN N323K unknown
PTEN C124S loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN G251A unknown
PTEN C124G loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN H93Q loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PIK3CA mut + KRAS mut + PTEN del
PIK3CA P124L PTEN del
PTEN del loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN V343L unknown Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN A126fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN G129R loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN T321fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
KIT D816E KIT Y570_L576del PTEN T321fs
PTEN N63fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN V317fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN P38H unknown
PTEN S227F loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN D268E unknown
PTEN W111R unknown
PTEN V119fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN E288K unknown
PTEN P248fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN P38L unknown
PTEN A34D loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN T131A loss of function - predicted
PTEN G129V loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN T167P loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN N340fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN T319fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN D115Y unknown
PTEN Y76fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN Y68D loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN G129D loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN Q171K unknown
PTEN K102fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN Y336* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN I122V no effect - predicted
PTEN F154L loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN G127R loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN L247Sfs*6 loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN K260fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN H61D loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN Q171P unknown
PTEN I32del unknown
PTEN K125M loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN N48K loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
KRAS G13C PIK3CA H1047Y PTEN G143fs PTEN K267fs
PTEN G143fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN S294R loss of function - predicted
PTEN I122N unknown
PTEN K66N unknown
PTEN K237fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
BRAF V600X PTEN H93D
PTEN H93D loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN L265fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN V133I loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN L42R loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN S59* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN E285* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN G165V loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN K267fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN I168F no effect - predicted
PTEN L112I unknown
PTEN K13Q loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN D92A loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN over exp unknown
PTEN R335G unknown
PTEN C124Y unknown
PTEN S362L no effect - predicted
PTEN Y176del unknown
PTEN Y177S unknown
PTEN C124fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN H93R unknown
PTEN Y155C loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN Y65* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN E288fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN T131P unknown
PTEN S170N loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN K260* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN D331G unknown Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN M205I unknown
PTEN R173H unknown
PTEN H123L unknown
PTEN Y86fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
BRAF V600X PIK3CA H1047R PTEN Y86fs
PTEN T131L loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN N12T loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN G165E loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN K62R loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN E288* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN R159S unknown
PTEN L108_D109del unknown
PTEN A126S unknown Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN G132V unknown
PTEN P96T unknown
PTEN W111* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN A126G loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN E256* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN Y65C loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN E299* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN E284* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN K66fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN T131I loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN C105W unknown
PTEN E256K unknown
PTEN H123D loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN L108R unknown
PTEN Y16C unknown
PTEN V217D loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN Y27fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PIK3CA wild-type PTEN Y27fs
PTEN H123Q loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN M134L loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN A121T unknown
PTEN K289E unknown Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN T160I loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN P95L loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN C218* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN Y68C loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN H118fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN V166Sfs*14 loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN F337fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN N94I loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN K6N unknown
PTEN S10I unknown
PTEN I135K unknown
PTEN P95Q unknown
PTEN K128_R130del loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN R130fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN C124R loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN S170I unknown
PTEN P246L no effect - predicted
PTEN P96L unknown
PTEN Y174N loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN D331Tfs*13 loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN E291* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN Q110* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN G36R loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN R15I loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN L325F loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN T131S no effect - predicted
PTEN H61P unknown
PTEN E284fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN D24N loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN K125N loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN H61K unknown
PTEN E235* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN D116fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN K163fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN Y68N unknown
PTEN R335* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN D92N no effect - predicted
PTEN H61R loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN L23F loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN P96S unknown
PTEN R14G unknown
PTEN F56fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN G129* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN H123Y loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN L112V unknown
PTEN L325R loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PIK3CA H1047R PTEN loss
KRAS G12D PTEN loss TP53 V216M
BRAF V600E PTEN loss
ERBB2 pos PTEN loss
PIK3CA wild-type PTEN loss
PTEN loss KRAS G12D
PTEN loss STK11 loss
PIK3CA E545K PTEN loss
PIK3CA mutant PTEN loss
BRAF mut PTEN loss
PTEN loss TP53 loss
PIK3CA R38C PTEN loss
PIK3CA E453del PIK3CA T1025K PIK3CA R88L PTEN mut PTEN loss
BRAF V600D PTEN loss
PIK3CA D1029Y PTEN loss
BRAF V600E PTEN loss TP53 wild-type
PIK3CA E542K PTEN loss
PTEN loss loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
BRAF V600E/K PTEN loss
PTEN loss VHL loss
ERBB2 pos PTEN loss PIK3CA act mut
EGFR amp PTEN loss
PTEN loss RB1 loss
PTEN C124F unknown
PTEN G251D loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN A126T unknown
PTEN R130A loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN F90S loss of function
PTEN D252Y loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN D92V loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN L247_P248del loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN D162G no effect - predicted
PTEN I122L loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PIK3CA H1047R PTEN E307K
PTEN E307K unknown
PTEN K128Q loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN K128R no effect
PTEN Q17* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN L152P unknown
PTEN R130G loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
KRAS G12D PIK3CA H1047R PTEN R130G
PIK3CA D350G PIK3CA R93W PTEN R130G
PTEN V369G no effect - predicted
PTEN P95S loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN K60N unknown
PTEN A79T no effect - predicted
PTEN R173P loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN C136R loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN D92E loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN Q245* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
EGFR act mut EGFR A289T PTEN I253N PTEN N69D
PTEN I253N unknown
PTEN Y46C unknown
PTEN K289Nfs*8 loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN A121V no effect - predicted
PTEN M35R loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN A126D loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN A126P unknown
PTEN G251V loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN E291K unknown
PTEN R173C loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN C211Y unknown
PTEN A120T unknown
PTEN P248H unknown
PTEN K125* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN A121P loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN K128N unknown
PTEN G156R unknown
PTEN G293fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN K66E unknown
PTEN C105Y unknown
PTEN G165R loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN N48I unknown
PTEN H118P loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN Y174D unknown
PTEN R130P unknown Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN C71Y loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN L70H unknown
PTEN R233Q no effect - predicted
PTEN V343E loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN E256Q unknown
PTEN F21A loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN P246fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN L70fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN S170R loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN C136Y loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN Q171E unknown
PTEN E242* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN wild-type no effect
PIK3CA G106_R108del PTEN wild-type
PIK3CA act mut PTEN wild-type
BRAF mut PTEN wild-type
BRAF V600E PTEN wild-type
PIK3CA H1047R PIK3CA K111R PTEN wild-type
PTEN L182fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN R173fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN C105G unknown
PTEN E285K unknown
PTEN S59L unknown
PTEN C136F loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN N329fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN A126V loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN C124N loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN K254Rfs*42 loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN C105F loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN G20E loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN N292fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN Y176* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN K6fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
KRAS G12V PTEN K6fs
PTEN T167A unknown Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN Y138L loss of function - predicted
PTEN K60T unknown
PTEN D107H unknown
PTEN E242K unknown
PTEN P38S unknown
PTEN Y68fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN V290* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN Q261* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN V158fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN Y27S loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN I67T unknown
PTEN L57W loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN G132D unknown
PTEN P169H no effect - predicted
PTEN Q171* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN F347L loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN P213S unknown
PTEN S10N loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN K342N no effect - predicted
PTEN M134I unknown
PTEN R233* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
BRAF mut PTEN mut
PIK3CA E365K PTEN mut
PIK3CA R108H PTEN mut
ERBB2 pos PTEN mut
PIK3CA R88Q PTEN mut KRAS G12V
PIK3CA R38C PTEN mut
PTEN mut RB1 mut SMAD4 mut TP53 mut
PIK3CA R88Q PTEN mut
PTEN mutant TP53 mutant
BRAF V600E PTEN mut
PTEN mutant unknown
PTEN E201* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN G132C unknown
PTEN H61L unknown
PTEN I122S loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN G129A no effect - predicted
PTEN C136W unknown
PTEN P283L unknown
PTEN Q110R no effect - predicted
PTEN E7* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
ERBB2 amp PTEN dec exp
KRAS G12D PTEN dec exp TP53 R306*
PTEN dec exp no effect
PIK3CA act mut PTEN dec exp
ERBB2 pos PTEN dec exp
PTEN G127V loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN N69D unknown
PTEN T319del loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN V175A unknown
PTEN L57S unknown
PTEN R15K loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN G127E loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN K263* loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN R130L loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN A121E loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN R130K loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN V54fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN Y177F unknown
PTEN Q17del unknown
PTEN D331fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN E242fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN Y88C no effect - predicted
PTEN F56S unknown
PTEN D326N loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN P339S unknown
PTEN S338T unknown
PTEN G251S unknown
PTEN L112P loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN Y16fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
BRAF V600X PTEN neg
PTEN negative loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN F241S loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN N323T unknown
PTEN L318fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN G251_D252del unknown
PTEN P248L unknown
PTEN K66Q unknown
PTEN Q298fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN E157G loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN K13E loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN R47M unknown
PTEN D162H no effect
PTEN M199del loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN T401I loss of function - predicted
PTEN V290fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN G127N loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
PTEN N276S loss of function - predicted
PTEN W274fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PTEN R130* follicular thyroid carcinoma sensitive MK2206 Preclinical - Cell culture Actionable In a preclinical study, MK2206 inhibited AKT activation, proliferation, and growth of thyroid cancer cell lines with PI3K/AKT pathway alterations in culture, including an follicular thyroid cancer cell line harboring PTEN R130* and loss of one PTEN allele (PMID: 21289267). 21289267
PTEN V275* triple-receptor negative breast cancer sensitive DHM25 Preclinical - Cell culture Actionable In a preclinical study, DHM25 increased cell death and decreased migration of a triple-negative breast cancer cell line harboring PTEN V275* in culture (PMID: 26237138). 26237138
PTEN A72fs breast cancer sensitive Gedatolisib Preclinical Actionable In a preclinical study, Gedatolisib (PKI-587) inhibited growth of human breast cancer cells harboring PTEN A72fs*5 in culture (PMID: 21325073, PMID: 17314276). 17314276 21325073
PTEN A72fs triple-receptor negative breast cancer sensitive DHM25 Preclinical - Cell culture Actionable In a preclinical study, DHM25 increased cell death in a triple-negative breast cancer cell line harboring PTEN A72fs*5 in culture (PMID: 26237138). 26237138
PTEN R130Q head and neck squamous cell carcinoma predicted - sensitive Carboplatin + Paclitaxel + Temsirolimus Phase II Actionable In a Phase II trial, a patient with head and neck squamous cell carcinoma harboring PTEN R130Q demonstrated a partial response when treated with the combination of Torisel (temsirolimus), Paraplatin (carboplatin), and Taxol (paclitaxel) (PMID: 28961834). 28961834
FGFR2 N550K PIK3CA I20M PIK3CA P539R PTEN R130Q PTEN T321fs endometrial cancer sensitive Alpelisib + BGJ398 Preclinical - Cell culture Actionable In a preclinical study, the combination of BGJ398 and Alpelisib (BYL719) resulted in a synergistic effect, demonstrating inhibition of cell proliferation and induced cell death in an endometrial cancer cell line harboring FGFR2 N550K, PIK3CA I20M and P539R, and PTEN R130Q and T321fs*23 in culture (PMID: 28119489). 28119489
FGFR2 N550K PIK3CA I20M PIK3CA P539R PTEN R130Q PTEN T321fs endometrial cancer sensitive BGJ398 + Pictilisib Preclinical - Cell culture Actionable In a preclinical study, the combination of BGJ398 and Pictilisib (GDC-0941) resulted in a synergistic effect, demonstrating inhibition of cell proliferation, decreased colony formation, and cell death in an endometrial cancer cell line harboring FGFR2 N550K, PIK3CA I20M and P539R, and PTEN R130Q and T321fs*23 in culture (PMID: 28119489). 28119489
FGFR2 N550K PIK3CA I20M PIK3CA P539R PTEN R130Q PTEN T321fs endometrial cancer sensitive BGJ398 + BKM120 Preclinical - Cell culture Actionable In a preclinical study, the combination of BGJ398 and Buparlisib (BKM120) resulted in a synergistic effect, demonstrating inhibition of cell proliferation, decreased colony formation, and cell death in an endometrial cancer cell line harboring FGFR2 N550K, PIK3CA I20M and P539R, and PTEN R130Q and T321fs*23 in culture (PMID: 28119489). 28119489
BRAF mut PTEN inact mut melanoma sensitive AZD6482 Preclinical Actionable In a preclincal study, AZD6482 inhibited Akt activation and proliferation in melanoma cell lines harboring BRAF mutations and PTEN inactivating mutations in culture (PMID: 26577700). 26577700
BRAF mut PTEN inact mut melanoma sensitive Binimetinib + Pictilisib Preclinical Actionable In a preclinical study, Pictilisib (GDC-0941) and Binimetinib (MEK162) synergistically inhibited proliferation of melanoma cell lines harboring BRAF mutations and PTEN inactivating mutations in culture (PMID: 26577700). 26577700
BRAF mut PTEN inact mut melanoma no benefit BYL719 + NVP-AEW541 Preclinical Actionable In a preclinical study, Alpelisib (BYL719) and NVP-AEW541 combination treatment did not enhance growth inhibition compared to single agent in melanoma cell lines harboring BRAF mutations and PTEN inactivating mutations in culture (PMID: 26577700). 26577700
BRAF mut PTEN inact mut melanoma sensitive Encorafenib + Pictilisib Preclinical Actionable In a preclinical study, Pictilisib (GDC-0941) and Encorafenib (LGX818) synergistically inhibited proliferation of melanoma cell lines harboring BRAF mutations and PTEN inactivating mutations in culture (PMID: 26577700). 26577700
BRAF mut PTEN inact mut melanoma sensitive AZD6482 + LGX818 + BYL719 Preclinical Actionable In a preclinical study, combination treatment consisting of AZD6482, Encorafenib (LGX818), and Alpelisib (BYL719) efficiently induced apoptosis in melanoma cell lines harboring BRAF mutations and PTEN inactivating mutations in culture (PMID: 26577700). 26577700
BRAF mut PTEN inact mut melanoma sensitive AZD6482 + LGX818 Preclinical Actionable In a preclinical study, AZD6482 and Encorafenib (LGX818) synergistically inhibited proliferation of melanoma cell lines harboring BRAF mutations and PTEN inactivating mutations in culture (PMID: 26577700). 26577700
BRAF mut PTEN inact mut melanoma sensitive AZD6482 + NVP-AEW541 Preclinical Actionable In a preclinical study, AZD6482 and NVP-AEW541 synergistically inhibited proliferation of melanoma cell lines harboring BRAF mutations and PTEN inactivating mutations in culture (PMID: 26577700). 26577700
BRAF mut PTEN inact mut melanoma sensitive NVP-AEW541 + Pictilisib Preclinical Actionable In a preclinical study, Pictilisib (GDC-0941) and NVP-AEW541 synergistically inhibited proliferation of melanoma cell lines harboring BRAF mutations and PTEN inactivating mutations in culture (PMID: 26577700). 26577700
BRAF mut PTEN inact mut melanoma sensitive LGX818 + unspecified IGF-1R antibody Preclinical Actionable In a preclinical study, combination treatment consists of Encorafenib (LGX818) and a figitumumab-like antibody inhibited tumor growth in xenograft models of melanoma cell lines harboring BRAF mutations and PTEN inactivating mutations (PMID: 26577700). 26577700
BRAF mut PTEN inact mut melanoma sensitive GSK2636771 + LGX818 + unspecified IGF-1R antibody Preclinical - Cell line xenograft Actionable In a preclinical study, combination treatment consisting of GSK2636771, Encorafenib (LGX818), and a figitumumab-like antibody inhibited tumor growth in xenograft models of melanoma cell lines harboring BRAF mutations and PTEN inactivating mutations (PMID: 26577700). 26577700
BRAF mut PTEN inact mut melanoma sensitive AZD6482 + Binimetinib + BYL719 Preclinical - Cell culture Actionable In a preclinical study, combination treatment consisting of AZD6482, Binimetinib (MEK162), and Alpelisib (BYL719) efficiently induced apoptosis in melanoma cell lines harboring BRAF mutations and PTEN inactivating mutations in culture (PMID: 26577700). 26577700
BRAF mut PTEN inact mut melanoma sensitive BYL719 + GSK2636771 + LGX818 Preclinical - Cell line xenograft Actionable In a preclinical study, the combination of GSK2636771, Encorafenib (LGX818), and Alpelisib (BYL719) efficiently inhibited tumor growth in xenograft models of a human melanoma cell line harboring BRAF mutations and PTEN inactivating mutations (PMID: 26577700). 26577700
BRAF mut PTEN inact mut melanoma no benefit Alpelisib + Binimetinib Preclinical Actionable In a preclinical study, Alpelisib (BYL719) and Binimetinib (MEK162) combination treatment did not enhance growth inhibition compared to single agent in melanoma cell lines harboring BRAF mutations and PTEN inactivating mutations in culture (PMID: 26577700). 26577700
BRAF mut PTEN inact mut melanoma no benefit BYL719 + LGX818 Preclinical Actionable In a preclinical study, Alpelisib (BYL719) and Encorafenib (LGX818) combination treatment did not enhance growth inhibition in melanoma cell lines harboring BRAF mutations and PTEN inactivating mutations in culture (PMID: 26577700). 26577700
BRAF mut PTEN inact mut melanoma sensitive GSK2636771 + LGX818 Preclinical Actionable In a preclinical study, GSK2636771 and Encorafenib (LGX818) synergistically inhibited proliferation of melanoma cell lines harboring BRAF mutations and PTEN inactivating mutations in culture (PMID: 26577700). 26577700
BRAF mut PTEN inact mut melanoma sensitive AZD6482 + Binimetinib + LGX818 + NVP-AEW541 Preclinical Actionable In a preclinical study, combination treatment consists of AZD6482, Binimetinib (MEK162), Encorafenib (LGX818), and NVP-AEW541 efficiently induced apoptosis in melanoma cell lines harboring BRAF mutations and PTEN inactivating mutations in culture (PMID: 26577700). 26577700
BRAF mut PTEN inact mut melanoma sensitive GSK2636771 + unspecified IGF-1R antibody Preclinical - Cell line xenograft Actionable In a preclinical study, combination treatment consisting of GSK2636771 and a figitumumab-like antibody inhibited tumor growth in xenograft models of melanoma cell lines harboring BRAF mutations and PTEN inactivating mutations (PMID: 26577700). 26577700
BRAF mut PTEN inact mut melanoma sensitive BYL719 + GSK2636771 Preclinical - Cell line xenograft Actionable In a preclinical study, the combination of GSK2636771 and Alpelisib (BYL719) synergized to inhibit proliferation of human melanoma cell lines harboring BRAF mutations and PTEN inactivating mutations in culture, and inhibited tumor growth in xenograft models of one cell line harboring these mutations (PMID: 26577700). 26577700
BRAF mut PTEN inact mut melanoma sensitive GSK2636771 + NVP-AEW541 Preclinical Actionable In a preclinical study, GSK2636771 and NVP-AEW541 synergistically inhibited proliferation of melanoma cell lines harboring BRAF mutations and PTEN inactivating mutations in culture (PMID: 26577700). 26577700
BRAF mut PTEN inact mut melanoma sensitive AZD6482 + LGX818 + NVP-AEW541 Preclinical Actionable In a preclinical study, combination treatment consists of AZD6482, Encorafenib (LGX818), and NVP-AEW541 efficiently induced apoptosis in melanoma cell lines harboring BRAF mutations and PTEN inactivating mutations in culture (PMID: 26577700). 26577700
BRAF mut PTEN inact mut melanoma sensitive AZD6482 + Binimetinib + LGX818 + BYL719 Preclinical Actionable In a preclinical study, combination treatment consisting of AZD6482, Binimetinib (MEK162), Encorafenib (LGX818), and Alpelisib (BYL719) efficiently induced apoptosis in melanoma cell lines harboring BRAF mutations and PTEN inactivating mutations in culture (PMID: 26577700). 26577700
BRAF mut PTEN inact mut melanoma sensitive AZD6482 + Binimetinib Preclinical Actionable In a preclinical study, AZD6482 and Binimetinib (MEK162) synergistically inhibited proliferation of melanoma cell lines harboring BRAF mutations and PTEN inactivating mutations in culture (PMID: 26577700). 26577700
BRAF mut PTEN inact mut melanoma sensitive AZD6482 + Binimetinib + NVP-AEW541 Preclinical Actionable In a preclinical study, combination treatment consists of AZD6482, Binimetinib (MEK162), and NVP-AEW541 efficiently induced apoptosis in melanoma cell lines harboring BRAF mutations and PTEN inactivating mutations in culture (PMID: 26577700). 26577700
BRAF mut PTEN inact mut melanoma sensitive Pictilisib Preclinical Actionable In a preclincal study, Pictilisib (GDC-0941) inhibited Akt activation and proliferation in melanoma cell lines harboring BRAF mutations and PTEN inactivating mutations in culture (PMID: 26577700). 26577700
BRAF mut PTEN inact mut melanoma sensitive GSK2636771 + Binimetinib Preclinical Actionable In a preclinical study, GSK2636771 and Binimetinib (MEK162) synergistically inhibited proliferation of melanoma cell lines harboring BRAF mutations and PTEN inactivating mutations in culture (PMID: 26577700). 26577700
BRAF mut PTEN inact mut melanoma sensitive TGX-221 Preclinical Actionable In a preclincal study, TGX-221 inhibited Akt activation and proliferation in melanoma cell lines harboring BRAF mutations and PTEN inactivating mutations in culture (PMID: 26577700). 26577700
BRAF mut PTEN inact mut melanoma decreased response Alpelisib Preclinical Actionable In a preclincal study, melanoma cell lines harboring BRAF mutations and PTEN inactivating mutations were less sensitive to Alpelisib (BYL719)-induced growth inhibition in culture (PMID: 26577700). 26577700
BRAF mut PTEN inact mut melanoma sensitive AZD6482 + BYL719 Preclinical Actionable In a preclinical study, AZD6482 and Alpelisib (BYL719) synergistically inhibited proliferation of melanoma cell lines harboring BRAF mutations and PTEN inactivating mutations in culture (PMID: 26577700). 26577700
PTEN inact mut prostate adenocarcinoma sensitive XL147 Preclinical - Cell line xenograft Actionable In a preclinical study, XL147 inhibited PI3K signaling, growth, and migration of a human prostate adenocarcinoma cell line harboring a PTEN inactivating mutation in culture, and inhibited tumor growth and vascularization in xenograft models (PMID: 25637314). 25637314
PTEN inact mut kidney cancer sensitive LY3023414 Preclinical - Cell line xenograft Actionable In a preclinical study, LY3023414 inhibited proliferation of renal cancer cells harboring PTEN inactivating mutation in culture, resulted in tumor growth inhibition in cell line xenograft models (PMID: 27439478). 27439478
PTEN inact mut glioblastoma multiforme sensitive SF1126 Preclinical - Cell line xenograft Actionable In a preclinical study, a glioblastoma cell line harboring a PTEN inactivating mutation (PMID: 24634413) was sensitive to SF1126, demonstrating inhibition of tumor growth in cell line xenograft models (PMID: 18172313). 18172313 24634413
PTEN inact mut estrogen-receptor positive breast cancer sensitive Fulvestrant + Pictilisib Preclinical - Cell culture Actionable In a preclinical study, the combination of Faslodex (fulvestrant) and PIctilisib (GDC-0941) resulted in decreased cell viability and increased apoptotic activity in PTEN deficient estrogen-receptor (ER) positive breast cancer cells in culture (PMID: 26733612). 26733612
PTEN inact mut estrogen-receptor positive breast cancer sensitive Pictilisib Preclinical - Cell culture Actionable In a preclinical study, a PTEN deficient estrogen-receptor (ER) positive breast cancer cell line demonstrated increased sensitivity to treatment in culture when Pictilisib (GDC-0941) was given at a higher dose for a shorter duration, resulting in inhibition of cell growth (PMID: 26733612). 26733612
PTEN inact mut prostate adenocarcinoma sensitive XL147 + Paclitaxel Preclinical - Cell line xenograft Actionable In a preclinical study, the combination of XL147 and Taxol (paclitaxel) inhibited tumor growth and angiogenesis in xenograft models of a human prostate adenocarcinoma cell line harboring an inactivating mutation in PTEN, with increased efficacy compared to either agent alone (PMID: 25637314). 25637314
PTEN inact mut glioblastoma multiforme sensitive SAR245409 Preclinical - Cell line xenograft Actionable In a preclinical study, a glioblastoma cell line harboring a PTEN inactivating mutation was sensitive to XL765 (SAR245409), demonstrating inhibition of cell proliferation in culture, and inhibition of tumor growth in cell line xenograft models (PMID: 24634413). 24634413
PTEN inact mut Advanced Solid Tumor sensitive Capivasertib Preclinical - Cell culture Actionable In a preclinical study, AZD5363 inhibited growth of various solid tumor cell culture models with inactivating Pten mutations (PMID: 22294718). 22294718
APC inact mut KRAS G12D PTEN inact mut colorectal cancer sensitive BEZ235 Preclinical Actionable In a preclinical study, BEZ235 inhibited mTOR signaling in tumors and increased survival in transgenic animal models of colorectal cancer driven by APC and PTEN inactivation, and KRAS G12D (PMID: 26206338). 26206338
APC inact mut KRAS G12D PTEN inact mut colorectal cancer no benefit Binimetinib Preclinical Actionable In a preclinical study, Binimetinib (MEK162) increased both apoptosis and proliferation in tumors, resulted in no improvement in survival in transgenic animal models of colorectal cancer driven by APC and PTEN inactivation and KRAS G12D (PMID: 26206338). 26206338
APC inact mut KRAS G12D PTEN inact mut colorectal cancer sensitive BEZ235 + Binimetinib Preclinical Actionable In a preclinical study, combination of BEZ235 and Binimetinib (MEK162) increased survival compared to single agent in transgenic animal models of colorectal cancer driven by APC and PTEN inactivation and KRAS G12D (PMID: 26206338). 26206338
APC inact mut PTEN inact mut colorectal cancer no benefit BEZ235 + Binimetinib Preclinical Actionable In a preclinical study, combination of BEZ235 and Binimetinib (MEK162) did not improve survival compared to single agent in transgenic animal models of colorectal cancer driven by APC and PTEN inactivation (PMID: 26206338). 26206338
APC inact mut PTEN inact mut colorectal cancer sensitive BEZ235 Preclinical Actionable In a preclinical study, BEZ235 inhibited PI3K/mTOR signaling in tumors and increased survival in transgenic animal models of colorectal cancer driven by APC and PTEN inactivation (PMID: 26206338). 26206338
APC inact mut PTEN inact mut colorectal cancer no benefit Binimetinib Preclinical Actionable In a preclinical study, Binimetinib (MEK162) reduced proliferation in tumors acutely but did not improve survival in transgenic animal models of colorectal cancer driven by APC and PTEN inactivation (PMID: 26206338). 26206338
EGFR amp EGFR act mut PTEN R308C glioblastoma multiforme sensitive BMS-754807 + Dacomitinib Preclinical - Cell culture Actionable In a preclinical study, Vizimpro (dacomitinib) and BMS-754807 worked synergistically to inhibit survival of glioblastoma cell lines harboring EGFR amplification, EGFRvIII, and PTEN R308C in culture (PMID: 26561558). 26561558
EGFR amp EGFR act mut PTEN R308C glioblastoma multiforme sensitive Gefitinib + Linsitinib Preclinical Actionable In a preclinical study, Iressa (gefitinib) and Linsitinib (OSI-906) worked synergistically to inhibit survival of glioblastoma cell lines harboring EGFR amplification, EGFRvIII, and PTEN R308C in culture (PMID: 26561558). 26561558
GNAQ Q209L PTEN R173S ocular melanoma predicted - sensitive Refametinib Phase I Actionable In a Phase I clinical trial, Refametinib (BAY 86-9766) demonstrated preliminary clinical activity in patients with several tumor types, including prolonged stable disease in an ocular melanoma patient harboring GNAQ Q209L and PTEN R173S (PMID: 23434733). 23434733
AKT1 Q79K BRAF V600X PTEN pos melanoma sensitive MK2206 + Vemurafenib Preclinical - Cell culture Actionable In a preclinical study, the combination of MK2206 and Zelboraf (vemurafenib) inhibited AKT activation and growth of PTEN-expressing BRAF V600-mutant melanoma cells expressing AKT1 Q79K in culture, with increased efficacy over either agent alone (PMID: 24265152). 24265152
AKT1 Q79K BRAF V600X PTEN pos melanoma resistant Vemurafenib Preclinical - Cell culture Actionable In a preclinical study, expression of AKT1 Q79K in a wild-type PTEN-expressing BRAF V600-mutant melanoma cell line conferred resistance to Zelboraf (vemurafenib) in culture (PMID: 24265152). 24265152
PTEN positive melanoma sensitive Pembrolizumab Clinical Study Actionable In a clinical study, melanoma patients with PTEN positive tumors demonstrated a decrease in tumor size when treated with Keytruda (pembrolizumab) (PMID: 26645196). 26645196
PTEN positive melanoma sensitive Nivolumab Clinical Study Actionable In a clinical study, melanoma patients with PTEN positive tumors demonstrated a decrease in tumor size when treated with Opdivo (nivolumab) (PMID: 26645196). 26645196
AKT1 E17K BRAF V600X PTEN pos melanoma resistant Vemurafenib Preclinical - Cell culture Actionable In a preclinical study, expression of AKT1 E17K in a wild-type PTEN-expressing BRAF V600-mutant melanoma cell line conferred resistance to Zelboraf (vemurafenib) in culture (PMID: 24265152). 24265152
PTEN pos KRAS G12D endometrial cancer sensitive Metformin Preclinical - Cell line xenograft Actionable In a preclinical study, Glucophage (metformin) inhibited cell proliferation and induced apoptosis in a PTEN-expressing human endometrial cancer cell line harboring KRAS G12D in culture and decreased tumor growth in xenograft models (PMID: 24077915). 24077915
PIK3CA P124L PTEN del urinary bladder cancer decreased response Pictilisib Preclinical - Cell culture Actionable In a preclinical study, Pictilisib (GDC-0941) demonstrated limited inhibition of Akt phosphorylation and growth in bladder cancer cells harboring PIK3CA P124L and PTEN deletion in culture (PMID: 28808038). 28808038
PTEN del prostate cancer sensitive Pictilisib + vorinostat Preclinical Actionable In a preclinical study, GDC-0941 and Zolinza (vorinostat) acted synergistically to inhibit growth of a human prostate cancer cell line harboring a PTEN deletion in culture (PMID: 9661880, PMID: 22693356). 22693356 9661880
PTEN del prostate cancer sensitive AZD8186 + BYL719 Preclinical Actionable In a preclinical study, AZD8186 and Alpelisib (BYL719) combination treatment resulted in minor inhibition of tumor growth in animal models of prostate cancer harboring PTEN gene deletion (PMID: 25544636). 25544636
PTEN del prostate cancer sensitive CH5132799 Preclinical - Cell line xenograft Actionable In a preclinical study, CH5132799 inhibited tumor growth in xenograft models of a human prostate cancer cell line with deletion of PTEN (PMID: 21558396). 21558396
PTEN del urinary bladder cancer sensitive Metformin Preclinical Actionable In a preclinical study, bladder cancer cells with PTEN deletion were sensitive to Glucophage (metformin) in culture, resulting in inhibition of cell growth (PMID: 26921394). 26921394
PTEN del prostate cancer sensitive AZD8186 + BYL719 + Enzalutamide Preclinical Actionable In a preclinical study, AZD8186, Alpelisib (BYL719), and Xtandi (enzalutamide) combination treatment resulted in near-complete suppression of tumor growth in animal models of prostate cancer harboring PTEN gene deletion (PMID: 25544636). 25544636
PTEN del stomach cancer sensitive CH5132799 Preclinical - Cell line xenograft Actionable In a preclinical study, CH5132799 induced tumor regression in xenograft models of a human stomach cancer cell line with deletion of PTEN (PMID: 21558396). 21558396
PTEN del prostate cancer sensitive VS-5584 Preclinical - Cell line xenograft Actionable In a preclinical study, VS-5584 inhibited PI3K/mTOR signaling and cell proliferation in a human prostate cancer cell line harboring a PTEN deletion in culture, and inhibited PI3K/MTOR signaling and tumor growth in xenograft models (PMID: 23270925). 23270925
PTEN del Advanced Solid Tumor sensitive CC-223 Phase I Actionable In a Phase I trial, CC-223 demonstrated safety and preliminary efficacy in patients with solid tumors, including stable disease for greater than 110 days in 2 patients with PIK3CA mutation or PTEN deletion (PMID: 26177599). 26177599
PTEN del breast cancer sensitive CUDC-907 Preclinical - Cell culture Actionable In a preclinical study, CUDC-907 inhibited growth of breast cancer cells lines harboring Pten mutations and/or deletions (PMID: 22693356). 22693356
PTEN del prostate cancer predicted - sensitive AZD8186 Phase I Actionable In a Phase I trial, AZD8186 demonstrated preliminary efficacy in patients with tumor types with prevalent PTEN-deficiency, including prostate cancer (AACR; Cancer Res 2015;75(15 Suppl):Abstract nr CT329). detail...
PTEN del prostate cancer sensitive Gedatolisib Preclinical Actionable In a preclinical study, Gedatolisib (PKI-587) inhibited growth of human prostate cancer cells harboring PTEN deletion in culture (PMID: 21325073, PMID: 14737113). 14737113 21325073
PTEN del prostate cancer sensitive Ipatasertib Preclinical - Cell line xenograft Actionable In a preclinical study, prostate cancer cell line xenograft models with PTEN deletion demonstrated sensitivity to treatment with Ipatasertib (GDC-0068), resulting in inhibition of tumor growth (PMID: 24141624). 24141624
PTEN del non-small cell lung carcinoma predicted - sensitive PF-04691502 Preclinical - Cell line xenograft Actionable In a preclinical study, PF-04691502 inhibited tumor growth in PTEN-deleted non-small cell lung cancer cell line xenograft models (PMID: 21750219). 21750219
PTEN del prostate cancer sensitive AZD8186 + Enzalutamide Preclinical Actionable In a preclinical study, AZD8186 and Xtandi (enzalutamide) combination treatment resulted in suppression of tumor growth in animal models of prostate cancer harboring PTEN gene deletion (PMID: 25544636). 25544636
PTEN del prostate cancer sensitive Rucaparib Preclinical - Cell culture Actionable In a preclinical study, Rubraca (rucaparib) induced senescence and increased radiosensitivity in PTEN null prostate cancer cells in culture (PMID: 23565244). 23565244
PTEN del head and neck squamous cell carcinoma resistant Taselisib Preclinical Actionable In a preclinical study, head and neck squamous cell carcinoma cells homozygous for PTEN deletion were resistant to Taselisib (GDC-0032) in culture (PMID: 26589432). 26589432
PTEN del Advanced Solid Tumor no benefit GSK2636771 Phase I Actionable In a Phase I trial, patients with advanced solid tumors deficient in PTEN lacked benefit from GSK2636771 (PMID: 26117819). 26117819
PTEN G129R ovarian mucinous neoplasm decreased response KX2-391 Preclinical Actionable In a preclincal study, mucinous ovarian carcinoma cell lines over-expressing PTEN G129R were less sensitive to KX2-391 induced growth inhibition in culture and tumor suppression in xenograft models (PMID: 24100628). 24100628
KIT D816E KIT Y570_L576del PTEN T321fs gastrointestinal stromal tumor sensitive Regorafenib Preclinical - Pdx Actionable In a preclinical study, Stivarga (regorafenib) inhibited Kit, Erk, and Mtor signaling, resulted in tumor growth inhibition in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT D816E, KIT Y570_L576del, and PTEN T321fs, which was established from a patient who did not respond to Gleevec (imatinib mesylate), Sutent (sunitinib), and Nexavar (sorafenib) (PMID: 29100343). 29100343
KIT D816E KIT Y570_L576del PTEN T321fs gastrointestinal stromal tumor resistant Imatinib Preclinical - Pdx Actionable In a preclinical study, Gleevec (imatinib mesylate) did not inhibit Kit, Erk, or Mtor signaling and resulted in minimal tumor inhibition in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT D816E, KIT Y570_L576del, and PTEN T321fs, which was established from a patient who did not respond to Gleevec (imatinib mesylate), Sutent (sunitinib), and Nexavar (sorafenib) (PMID: 29100343). 29100343
KIT D816E KIT Y570_L576del PTEN T321fs gastrointestinal stromal tumor sensitive Imatinib mesylate + LY294002 Preclinical - Pdx Actionable In a preclinical study, Gleevec (imatinib mesylate) in combination with LY394002 resulted in enhanced tumor growth inhibition compared to monotherapy in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT D816E, KIT Y570_L576del, and PTEN T321fs, which was established from a patient who did not respond to Gleevec (imatinib mesylate), Sutent (sunitinib), and Nexavar (sorafenib) (PMID: 29100343). 29100343
KIT D816E KIT Y570_L576del PTEN T321fs gastrointestinal stromal tumor resistant Sunitinib Preclinical - Pdx Actionable In a preclinical study, Sutent (sunitinib) demonstrated limited inhibition of Kit, Erk, and Mtor signaling and resulted in minimal (22.9%) tumor inhibition in patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT D816E, KIT Y570_L576del, and PTEN T321fs, which was established from a patient who did not respond to Gleevec (imatinib mesylate), Sutent (sunitinib), and Nexavar (sorafenib) (PMID: 29100343). 29100343
PTEN T319fs breast cancer sensitive BAY1125976 Preclinical - Cell culture Actionable In a preclinical study, BAY1125976 inhibited proliferation of a breast cancer cell line harboring PTEN T319fs*1 in culture (PMID: 27699769). 27699769
KRAS G13C PIK3CA H1047Y PTEN G143fs PTEN K267fs ovarian clear cell adenocarcinoma sensitive DS-7423 Preclinical - Cell line xenograft Actionable In a preclinical study, an ovarian clear cell adenocarcinoma cell line harboring KRAS G13C, PIK3CA H1047Y, PTEN G143fs, and PTEN K267fs was sensitive to treatment with DS-7423, demonstrating inhibition of cell proliferation in culture and tumor growth inhibition in xenograft models (PMID: 24504419). 24504419
BRAF V600X PTEN H93D melanoma sensitive Vemurafenib Clinical Study Actionable In a clinical study, a melanoma patient harboring a BRAF V600 mutation and PTEN H93D treated with Zelboraf (vemurafenib) for 66 weeks demonstrated a partial response (PMID: 24265153). 24265153
BRAF V600X PIK3CA H1047R PTEN Y86fs melanoma resistant Vemurafenib Clinical Study Actionable In a clinical study, a melanoma patient harboring PTEN Y86fs and BRAF V600X developed the resistance mutation, PIK3CA H1047R, after treatment with Zelboraf (vemurafenib) (PMID: 24265153). 24265153
PTEN A126G prostate cancer sensitive AZD6482 Preclinical Actionable In a preclinical study, AZD6482 inhibited Akt signaling and cell migration in prostate cancer cell lines overexpressing PTEN A126G (PMID: 26504226). 26504226
PTEN A126G prostate cancer sensitive Alpelisib Preclinical - Cell culture Actionable In a preclinical study, Alpelisib (BYL719) inhibited Akt signaling and cell migration in prostate cancer cells expressing PTEN A126G in culture (PMID: 26504226). 26504226
PTEN L108R breast cancer sensitive DHM25 Preclinical - Cell culture Actionable In a preclinical study, DHM25 increased cell death in a breast cancer cell line harboring PTEN L108R in culture (PMID: 26237138). 26237138
PTEN L108R breast cancer sensitive BAY1125976 Preclinical - Cell culture Actionable In a preclinical study, BAY1125976 inhibited proliferation of a breast cancer cell line harboring PTEN L108R in culture (PMID: 27699769). 27699769
PIK3CA H1047R PTEN loss breast cancer no benefit BEZ235 + Venetoclax Preclinical - Cell culture Actionable In a preclinical study, inhibition of Pi3k signaling by BEZ235 did not sensitize breast cancer cell lines harboring PIK3CA H1047R and PTEN loss to Venclexta (venetoclax) in culture (PMID: 27974663). 27974663
PIK3CA H1047R PTEN loss triple-receptor negative breast cancer predicted - sensitive ABT-737 + BEZ235 Preclinical - Cell line xenograft Actionable In a preclinical study, ABT-737 and BEZ235 combination treatment resulted in tumor regression in cell line xenograft models of triple-receptor negative breast cancer harboring PIK3CA H1047R and PTEN loss (PMID: 27974663). 27974663
PIK3CA H1047R PTEN loss triple-receptor negative breast cancer predicted - sensitive ABT-737 + MLN0128 Preclinical - Cell line xenograft Actionable In a preclinical study, ABT-737 and Sapanisertib (MLN0128) combination treatment resulted in inhibition of tumor growth in cell line xenograft models of triple-receptor negative breast cancer harboring PIK3CA H1047R and PTEN loss (PMID: 27974663). 27974663
PIK3CA H1047R PTEN loss breast cancer predicted - sensitive BEZ235 + WEHI-539 Preclinical - Cell culture Actionable In a preclinical study, inhibition of Pi3k signaling by BEZ235 sensitized breast cancer cell lines harboring PIK3CA H1047R and PTEN loss to WEHI-539 in culture (PMID: 27974663). 27974663
KRAS G12D PTEN loss TP53 V216M colorectal cancer no benefit MLN0128 + PD-0325901 Preclinical - Pdx Actionable In a preclinical study, Sapanisertib (MLN0128) and PD-0325901 combination treatment did not result in tumor growth stabilization in patient-derived xenograft models of colorectal cancer harboring KRAS G12D, PTEN loss, and TP53 V216M (PMID: 26272063). 26272063
BRAF V600E PTEN loss melanoma sensitive GSK2636771 + unspecified PD-1 antibody Preclinical Actionable In a preclinical study, treatment with the combination of GSK2636771 and a PD-1 antibody resulted in greater tumor infiltration of T-cells and tumor growth inhibition in mouse melanoma models expressing BRAF V600E with PTEN loss compared to either agent alone (PMID: 26645196). 26645196
BRAF V600E PTEN loss melanoma resistant Everolimus Clinical Study Actionable In a clinical study, a melanoma patient harboring PTEN loss and BRAF V600E demonstrated resistance to Afinitor (everolimus) treatment, resulting in progressive disease (PMID: 20664172). 20664174 20664172
BRAF V600E PTEN loss melanoma sensitive XL147 Preclinical - Cell line xenograft Actionable In a preclinical study, XL147 inhibited tumor growth in xenograft models of a PTEN-deficient human melanoma cell line harboring BRAF V600E (PMID: 25637314). 25637314
BRAF V600E PTEN loss melanoma sensitive Pictilisib + PLX4720 Preclinical Actionable In a preclinical study, a melanoma cell line harboring BRAF V600E and PTEN loss demonstrated sensitivity when treated with a combination of Pictilisib (GDC-0941) and PLX4720, resulting in decreased cell proliferation in culture (PMID: 24265153). 24265153
BRAF V600E PTEN loss melanoma sensitive GDC0879 + Pictilisib Preclinical - Cell culture Actionable In a preclinical study, GDC0879 and Pictilisib (GDC-0941) synergistically inhibited survival of melanoma cell lines harboring BFAF V600E and PTEN loss in cell culture (PMID: 19276360). 19276360
ERBB2 pos PTEN loss Her2-receptor positive breast cancer no benefit Palbociclib + Pictilisib Preclinical Actionable In a preclinical study, the combination of Ibrance (palbociclib) and Pictilisib (GDC-0941) did not improve growth inhibition compared to single drug treatment in ERBB2 (HER2)-positive breast cancer cell lines harboring PTEN loss in culture (PMID: 27020857). 27020857
ERBB2 pos PTEN loss Her2-receptor positive breast cancer decreased response Trastuzumab Phase I Actionable In a retrospective analysis, ERBB2 (HER2)-positive breast cancer patients with PTEN loss demonstrated a decreased median progression-free survival of 6.0 months, compared to 9.0 months for patients without PI3K pathway activation following treatment with a Herceptin (trastuzumab) containing regimen (PMID: 21676217). 21676217
PIK3CA wild-type PTEN loss breast cancer no benefit Everolimus + Selumetinib Preclinical - Cell culture Actionable In a preclinical study, breast cancer cells harboring PIK3CA wild-type and PTEN loss did not demonstrate any benefit when treated with a combination of Afinitor (everolimus) and Selumetinib (AZD6244) (PMID: 21358673). 21358673
PIK3CA wild-type PTEN loss breast cancer no benefit Everolimus + U0126 Preclinical - Cell culture Actionable In a preclinical study, breast cancer cells harboring PIK3CA wild-type and PTEN loss did not demonstrate any benefit when treated with a combination of Afinitor (everolimus) and U0126 (PMID: 21358673). 21358673
PIK3CA wild-type PTEN loss breast cancer sensitive Torkinib + U0126 Preclinical - Cell culture Actionable In a preclinical study, breast cancer cells harboring PIK3CA wild-type and PTEN loss demonstrated sensitivity to the combination treatment of Torkinib (PP242) and U0126 in culture (PMID: 21358673). 21358673
PIK3CA wild-type PTEN loss breast cancer sensitive Selumetinib + Torkinib Preclinical - Cell culture Actionable In a preclinical study, breast cancer cells harboring PIK3CA wild-type and PTEN loss demonstrated sensitivity to the combination treatment of Torkinib (PP242) and Selumetinib (AZD6244) in culture (PMID: 21358673). 21358673
PIK3CA wild-type PTEN loss breast cancer resistant AZD8835 Preclinical Actionable In a preclinical study, human breast cancer cells with wild-type PIK3CA and loss of PTEN were resistant to growth inhibition by AZD8835 in culture (PMID: 26839307). 26839307
PTEN loss KRAS G12D pancreatic adenocarcinoma sensitive MK2206 Phase I Actionable In a Phase I study, a patient with pancreatic adenocarcinoma harboring PTEN loss and KRAS G12D was treated with MK-2206 and demonstrated a 23% reduction in tumor size (PMID: 22025163). 22025163
PTEN loss STK11 loss endometrial cancer sensitive Pictilisib Preclinical Actionable In a preclinical study, the PI3K inhibitor GDC-0941 reduced tumor growth rate in immunodeficient mice engrafted with endometrial tumors from PTEN/STK11 (LKB1) deficient mice (PMID: 24322983). 24322983
PIK3CA E545K PTEN loss stomach cancer unknown Sirolimus Phase 0 Actionable In a pilot clinical trial, Rapamune (sirolumus) demonstrated modest clinical activity in patients with PIK3CA-mutant gastric cancer (n=3) or hilar cholangiocarcinoma (n=1), including 2 gastric cancer patients harboring PIK3CA E545K and PTEN loss, with a 0% response rate, median progression-free survival of 1.9 months, and median overall survival of 3.6 months (PMID: 28685070). 28685070
PIK3CA mutant PTEN loss breast cancer sensitive Buparlisib Preclinical - Pdx Actionable In a preclinical study, Buparlisib (BKM120) inhibited Akt signaling and growth in a PDX model of breast cancer cells harboring a PIK3CA mutation and PTEN loss ( Cancer Res October 1, 2014 74; LB-327 ). detail...
PIK3CA mutant PTEN loss breast cancer resistant Alpelisib Clinical Study Actionable In a case study, a breast cancer patient harboring a PIK3CA mutation developed resistance to Alpelisib (BYL719) treatment and progressive disease after initial response, accompanied by a loss of PTEN (Cancer Res October 1, 2014 74; LB-327). detail...
PIK3CA mutant PTEN loss breast cancer resistant Alpelisib Preclinical - Pdx Actionable In a preclinical study, a breast cancer patient-derived xenograft (PDX) model harboring a PIK3CA mutation and PTEN loss was resistant to Alpelisib (BYL719)-induced inhibition of Akt signaling and growth (Cancer Res October 1, 2014 74; LB-327). detail...
PIK3CA mutant PTEN loss prostate cancer sensitive PKI-179 Preclinical - Cell culture Actionable In a preclinical study, PKI-179 inhibited growth of prostate cancer cells harboring PIK3CA mutations and PTEN loss in culture (PMID: 20797855). 20797855
PIK3CA mutant PTEN loss breast cancer sensitive AZD6482 + BYL719 Preclinical - Pdx Actionable In a preclinical study, AZD6482 and Alpelisib (BYL719) combination treatment inhibited Akt signaling and growth in a breast cancer patient-derived xenograft (PDX) model harboring a PIK3CA mutation and PTEN loss (Cancer Res October 1, 2014 74; LB-327). detail...
BRAF mut PTEN loss melanoma sensitive SAR260301 + Selumetinib Preclinical - Cell line xenograft Actionable In a preclinical study, SAR260301 and Selumetinib (AZD6244) synergistically inhibited proliferation of PTEN deficient melanoma cells harboring BRAF mutations in culture and suppressed tumor growth in cell line xenograft models (PMID: 27196754). 27196754
BRAF mut PTEN loss melanoma sensitive SAR260301 + Vemurafenib Preclinical - Cell line xenograft Actionable In a preclinical study, SAR260301 and Zelboraf (vemurafenib) synergistically inhibited proliferation of PTEN deficient melanoma cells harboring BRAF mutations in culture and suppressed tumor growth in cell line xenograft models (PMID: 27196754). 27196754
BRAF mut PTEN loss melanoma sensitive GSK2636771 + Pembrolizumab Preclinical Actionable In a preclinical study, a melanoma mouse model harboring a BRAF mutation and PTEN loss was sensitive to the combination of GSK2636771 and Keytruda (pembrolizumab), demonstrating greater tumor growth inhibition and improved survival when compared to either therapy alone (PMID: 26645196). 26645196
BRAF mut PTEN loss melanoma sensitive SAR260301 Preclinical - Cell line xenograft Actionable In a preclinical study, SAR260301 inhibited proliferation of PTEN deficient melanoma cells harboring BRAF mutations in culture and suppressed tumor growth in cell line xenograft models (PMID: 27196754). 27196754
BRAF mut PTEN loss melanoma no benefit Pembrolizumab Preclinical Actionable In a preclinical study, Keytruda (pembrolizumab) resulted in no benefit in a melanoma mouse model co-harboring a BRAF mutation and PTEN loss (PMID: 26645196). 26645196
BRAF mut PTEN loss melanoma no benefit GSK2636771 Preclinical Actionable In a preclinical study, GSK2636771 resulted in no benefit in a melanoma mouse model co-harboring a BRAF mutation and PTEN loss (PMID: 26645196). 26645196
PTEN loss TP53 loss prostate cancer sensitive Capivasertib Preclinical Actionable In a preclinical study, treatment with AZD5363 improved overall survival and progression-free survival in mouse models of prostate cancer with inactivated PTEN and TP53 (PMID: 26910118). 26910118
PIK3CA R38C PTEN loss endometrial cancer sensitive CH5132799 Preclinical Actionable In a preclinical study, CH5132799 inhibited proliferation of an endometrial cancer cell line harboring PIK3CA R38C and PTEN loss in culture (PMID: 21558396). 21558396
PIK3CA E453del PIK3CA T1025K PIK3CA R88L PTEN mut PTEN loss endometrial carcinoma sensitive Copanlisib Phase I Actionable In a Phase I clinical trial, an endometrial carcinoma patient harboring PIK3CA T1052K, R88L, and E453del, as well as a PTEN mutation and loss of PTEN protein expression demonstrated a complete response to treatment with Aliqopa (copanlisib) (PMID: 27672108). 27672108
BRAF V600D PTEN loss melanoma sensitive XL147 Preclinical - Cell line xenograft Actionable In a preclinical study, XL147 inhibited tumor growth in xenograft models of a PTEN-deficient human melanoma cell line harboring BRAF V600D (PMID: 25637314). 25637314
BRAF V600E PTEN loss TP53 wild-type colorectal cancer sensitive MLN0128 + PD-0325901 Preclinical - Cell line xenograft Actionable In a preclinical study, Sapanisertib (MLN0128) and PD-0325901 synergistically inhibited Erk and PI3K signaling and proliferation, induced apoptosis in TP53-wild-type colorectal cancer cells harboring BRAF V600E and PTEN loss in culture and in cell line xenograft models (PMID: 26272063). 26272063
PIK3CA E542K PTEN loss breast cancer predicted - sensitive BEZ235 + WEHI-539 Preclinical - Cell culture Actionable In a preclinical study, inhibition of Pi3k signaling by BEZ235 sensitized breast cancer cell lines harboring PIK3CA E542K and PTEN loss to WEHI-539 in culture (PMID: 27974663). 27974663
PIK3CA E542K PTEN loss stomach cancer unknown Sirolimus Phase 0 Actionable In a pilot clinical trial, Rapamune (sirolumus) demonstrated modest clinical activity in patients with PIK3CA-mutant gastric cancer (n=3) or hilar cholangiocarcinoma (n=1), including a gastric cancer patient harboring PIK3CA E542K and PTEN loss, with a 0% response rate, median progression-free survival of 1.9 months, and median overall survival of 3.6 months (PMID: 28685070). 28685070
PTEN loss prostate cancer sensitive AZD6482 Preclinical Actionable In a preclinical study, AZD6482 inhibited viability of prostate cancer cell lines harboring PTEN deficiency in culture (PMID: 23674493). 23674493
PTEN loss triple-receptor negative breast cancer sensitive MSC2363318A Preclinical - Cell line xenograft Actionable In a preclinical study, a triple-receptor negative breast cancer xenograft model harboring PTEN loss was sensitive to M2698 (MSC2363318A), demonstrating inhibition of tumor growth and tumor regression (PMID: 27186432). 27186432
PTEN loss melanoma sensitive GSK2636771 Preclinical Actionable In a preclinical study, human melanoma cells with PTEN loss were sensitive to GSK2636771, resulting in decreased activation of Akt and some inhibition of tumor growth (PMID: 26645196). 26645196
PTEN loss melanoma sensitive DETD-35 Preclinical - Cell line xenograft Actionable In a preclinical study, DETD-35 treatment resulted in reduced tumor size in cell line xenograft models of Zelboraf (vemurafenib)-resistant melanoma harboring PTEN loss (PMID: 27048951). 27048951
PTEN loss ovarian mucinous neoplasm no benefit KX2-391 + Oxaliplatin Preclinical Actionable In a preclinical study, KX2-391 and Eloxatin (oxaliplatin) combination treatment did not show improved tumor suppression in xenograft models of ovarian mucinous carcinoma harboring PTEN loss when compared to single agent treatment (PMID: 24100628). 24100628
PTEN loss colon cancer sensitive KU-55933 Preclinical Actionable In a preclinical study, KU-55933 induced cell cycle arrest and caspase activation in PTEN deficient human colon cancer cells in culture (PMID: 25870146). 25870146
PTEN loss prostate cancer sensitive KU-60019 Preclinical Actionable In a preclinical study, KU-60019 blocked tumor growth in PTEN-deficient human prostate cancer xenograft models (PMID: 25870146). 25870146
PTEN loss Advanced Solid Tumor no benefit Everolimus Phase II Actionable In a Phase II trial, Afinitor (everolimus) treatment in patients with advanced solid tumors harboring PTEN loss did not reach its primary endpoint, resulting in only stable disease or progressive disease (PMID: 28330462). 28330462
PTEN loss prostate cancer predicted - sensitive CX-6258 Preclinical Actionable In a preclinical study, CX-6258 treatment resulted in decreased carcinoma in situ in PTEN deficient transgenic animal model of prostate cancer (PMID: 27486174). 27486174
PTEN loss non-small cell lung carcinoma sensitive Pictilisib Preclinical - Cell line xenograft Actionable In preclinical studies, the PI3K inhibitor GDC-0941 demonstrated efficacy against NSCLC tumor cell lines in both culture and xenograft models harboring alterations in the PI3K pathway (PMID: 23136191). 23136191
PTEN loss prostate cancer sensitive Abiraterone + Ipatasertib Clinical Study Actionable In a clinical study, the combination of Ipatasertib (GDC-0068) and Zytiga (abiraterone) resulted in a better progression free survival in metastatic castration resistant prostate cancer patients with PTEN loss when compared to placebo combined with Zytiga (abiraterone) (Ann Oncol (2016) 27 (suppl_6): 718O). detail...
PTEN loss breast cancer resistant Alpelisib Preclinical - Cell culture Actionable In a preclinical study, breast cancer cells harboring PTEN loss demonstrated resistance to Alpelisib (BYL719) in culture (PMID: 27604488). 27604488
PTEN loss prostate cancer sensitive OP449 Preclinical Actionable In a preclinical study, prostate cancer mouse models deficient for Pten demonstrated inhibition of the PI3K/Akt signaling pathway and a decrease in both tumor size and cell proliferation when treated with OP449 (PMID: 26563471). 26563471
PTEN loss colorectal cancer sensitive AZD8186 + Vistusertib Phase I Actionable In a Phase I trial, the combination of AZD8186 and Vistusertib (AZD2014) resulted in a partial response in a patient with PTEN-deficient colorectal cancer (J Clin Oncol 35, 2017 (suppl; abstr 2570)). detail...
PTEN loss breast cancer sensitive AZD6482 Preclinical Actionable In a preclinical study, AZD6482 inhibited viability of breast cancer cell lines harboring PTEN deficiency in culture (PMID: 23674493). 23674493
PTEN loss breast cancer sensitive GSK2636771 Preclinical Actionable In a preclinical study, GSK2636771 inhibited viability of breast cancer cell lines harboring PTEN deficiency in culture (PMID: 23674493). 23674493
PTEN loss prostate cancer no benefit MK2206 Phase I Actionable In a Phase I clinical trial, 8 patients with metastatic, castration-resistant prostate cancer harboring a loss of PTEN did not respond to MK-2206 therapy, but prolonged stable disease was observed in 2 patients (PMID: 26187616). 26187616
PTEN loss breast cancer resistant Everolimus Preclinical - Cell culture Actionable In a preclinical study, 10/12 breast cancer cell lines with PTEN loss demonstrated resistance to Afinitor (everolimus) in culture (PMID: 21358673). 21358673
PTEN loss ovarian cancer sensitive OSI-027 Preclinical - Cell line xenograft Actionable In a preclinical study, OSI-027 inhibited tumor growth in PTEN-null ovarian cancer cell line xenograft models (PMID: 21673091). 21673091
PTEN loss Advanced Solid Tumor no benefit SAR260301 Phase I Actionable In a Phase I trial, SAR260301 demonstrated acceptable safety but undesirable pharmacokinetics, and resulted in no response in patients with advanced solid tumors harboring PTEN loss (J Clin Oncol 33, 2015 (suppl; abstr 2564)). detail...
PTEN loss renal cell carcinoma predicted - sensitive Everolimus Clinical Study Actionable In a retrospective study, loss of PTEN expression was associated with improved progression-free survival compared to PTEN positive (10.5 vs 5.3 months) in renal cell carcinoma patients treated with Afinitor (everolimus) (PMID: 30327302). 30327302
PTEN loss breast cancer resistant Torkinib Preclinical - Cell culture Actionable In a preclinical study, breast cancer cell lines with PTEN loss demonstrated resistance to Torkinib (PP242) in culture (PMID: 21358673). 21358673
PTEN loss sarcoma sensitive YU238259 Preclinical Actionable In a preclinical study, YU238259 demonstrated increased cytotoxicity in PTEN-deficient sarcoma cell lines in culture (PMID: 26116172). 26116172
PTEN loss lung squamous cell carcinoma predicted - sensitive AZD8186 Phase I Actionable In a Phase I trial, AZD8186 demonstrated preliminary efficacy in patients with tumor types with prevalent PTEN-deficiency, including squamous non-small cell lung cancer (AACR; Cancer Res 2015;75(15 Suppl):Abstract nr CT329). detail...
PTEN loss prostate cancer no benefit CX-5461 Preclinical Actionable In a preclinical study, CX-5461 treatment did not result in histological change in PTEN deficient transgenic animal model of prostate cancer (PMID: 27486174). 27486174
PTEN loss glioblastoma multiforme sensitive PKI-402 Preclinical - Cell line xenograft Actionable In a preclinical study, PKI-402 inhibited tumor growth in PTEN-negative glioblastoma multiforme cell line xenograft models (PMID: 20371716). 20371716
PTEN loss breast cancer sensitive OSI-027 Preclinical - Cell line xenograft Actionable In a preclinical study, OSI-027 induced tumor regression in PTEN-null breast cancer cell line xenograft models (PMID: 21673091). 21673091
PTEN loss prostate cancer predicted - sensitive CX-5461 + CX-6258 Preclinical Actionable In a preclinical study, CX-6258 and CX-5461 combination treatment resulted in decreased tumor burden in PTEN deficient transgenic animal model of prostate cancer (PMID: 27486174). 27486174
PTEN loss prostate cancer sensitive AT13148 Preclinical - Cell line xenograft Actionable In a preclinical study, AT13148 inhibited tumor growth in a PTEN-deficient human prostate cancer cell line xenograft model (PMID: 22781553). 22781553
PTEN loss renal carcinoma sensitive Capivasertib Preclinical - Pdx Actionable In a preclinical study, AZD5363 inhibited growth of renal cancer Pdx models with Pten loss (PMID: 22294718). 22294718
PTEN loss triple-receptor negative breast cancer sensitive AZD6482 + Rucaparib Preclinical - Cell culture Actionable In a preclinical study, the combination of Rubraca (rucaparib) and AZD6482 inhibited growth of triple-negative breast cancer cell lines with PTEN loss in culture (Mol Cancer Res Feb 2016 14; B12). detail...
PTEN loss glioblastoma multiforme no benefit BLZ945 Preclinical Actionable In a preclinical study, BLZ945 resulted in limited benefit in transgenic mouse models of glioblastoma harboring a loss of PTEN (PMID: 27199435). 27199435
PTEN loss prostate cancer sensitive Ipatasertib Phase I Actionable In a Phase I trial, a patient with castration resistant prostate cancer harboring a loss of PTEN demonstrated an improved prostate specific antigen when treated with Ipatasertib (GDC-0068) (PMID: 27872130). 27872130
PTEN loss glioblastoma multiforme sensitive GDC-0084 Preclinical - Cell line xenograft Actionable In a preclinical study, two PTEN-deficient glioblastoma cell line xenograft models were sensitive to GDC-0084 treatment, resulting in decreased tumor volumes by 70% and 40%, and inhibition of PI3K pathway signaling (PMID: 27638506). 27638506
PTEN loss glioblastoma multiforme sensitive PF-04691502 Preclinical - Cell line xenograft Actionable In a preclinical study, PF-04691502 inhibited Akt phosphorylation, resulted in growth inhibition of PTEN-null glioblastoma cells in culture and in cell line xenograft models (PMID: 21750219). 21750219
PTEN loss melanoma decreased response Nivolumab Clinical Study Actionable In a clinical study, melanoma patients with PTEN loss demonstrated decreased response to anti-PD-1 antibodies, including Opdivo (nivolumab), as compared to patients in which PTEN is present (PMID: 26645196). 26645196
PTEN loss prostate cancer sensitive SAR245409 Preclinical - Cell line xenograft Actionable In a preclinical study, a prostate cancer cell line with PTEN loss was sensitive to XL765 (SAR245409) treatment, demonstrating inhibition of the PI3K pathway and decreased colony formation in culture, and inhibition of tumor growth and reduced tumor vascularization in cell line xenograft models (PMID: 24634413). 24634413
PTEN loss triple-receptor negative breast cancer predicted - sensitive AZD8186 Phase I Actionable In a Phase I trial, AZD8186 demonstrated preliminary efficacy in patients with tumor types with prevalent PTEN-deficiency, including triple negative breast cancer (AACR; Cancer Res 2015;75(15 Suppl):Abstract nr CT329). detail...
PTEN loss prostate cancer sensitive Capivasertib Preclinical Actionable In a preclinical study, treatment with AZD5363 decreased AKT phosphorylation and downstream signaling and reduced tumor burden in mouse models of PTEN-deficient prostate cancer, including both castration-naive and castration resistant models (PMID: 26910118). 26910118
PTEN loss melanoma decreased response Pembrolizumab Clinical Study Actionable In a clinical study, melanoma patients with PTEN loss demonstrated decreased response to anti-PD-1 antibodies, including Keytruda (pembrolizumab), compared to patients in which PTEN is present (PMID: 26645196). 26645196
PTEN loss prostate cancer sensitive AZD8186 Preclinical Actionable In a preclinical study, AZD8186 inhibited tumor growth of PTEN deficient prostate xenografts models (PMID: 25514658). 25514658
PTEN loss breast adenocarcinoma sensitive Gemcitabine + LY2780301 Phase Ib/II Actionable In a Phase Ib trial, a breast adenocarcinoma patient harboring PTEN loss demonstrated a partial response when treated with a combination of LY2780301 and Gemzar (gemcitabine) (PMID: 28750271). 28750271
PTEN loss Advanced Solid Tumor sensitive BAY1125976 Preclinical Actionable In a preclinical study, BAY1125976 demonstrated anti-tumor efficacy in multiple xenograft tumor models of different cancers with PIK3CA mutations or PTEN deletions and displayed synergy with other anti-cancer therapies (Cancer Res 2013;73(8 Suppl):Abstract nr 2050). detail...
PTEN loss triple-receptor negative breast cancer sensitive AZD6482 + Olaparib Preclinical - Cell culture Actionable In a preclinical study, the combination of Lynparza (olaparib) and AZD6482 inhibited growth of triple-negative breast cancer cell lines with PTEN loss in culture (Mol Cancer Res Feb 2016 14; B12). detail...
PTEN loss melanoma sensitive DETD-35 + Vemurafenib Preclinical - Cell line xenograft Actionable In a preclinical study, DETD-35 and Zelboraf (vemurafenib) combination treatment resulted in further reduction of tumor size in cell line xenograft models of Zelboraf (vemurafenib)-resistant melanoma harboring PTEN loss when compared to single agent treatment (PMID: 27048951). 27048951
PTEN loss Advanced Solid Tumor sensitive Capivasertib Preclinical - Cell culture Actionable In a preclinical study, AZD5363 inhibited growth of various solid tumor cell culture models with loss of Pten (PMID: 22294718). 22294718
PTEN loss uterine corpus sarcoma sensitive AT13148 Preclinical - Cell line xenograft Actionable In a preclinical study, AT13148 inhibited tumor growth in a PTEN-deficient human uterine sarcoma cell line xenograft model (PMID: 22781553). 22781553
PTEN loss prostate carcinoma decreased response SAR260301 Preclinical - Cell line xenograft Actionable In a precliinical study, PTEN deficient prostate carcinoma cells demonstrated reduced response to SAR260301 in cell culture and in cell line xenograft models (PMID: 27196754). 27196754
PTEN loss glioblastoma multiforme resistant A66 Preclinical - Cell line xenograft Actionable In a preclinical study, A66 did not inhibit tumor growth in a PTEN-null cell line xenograft model of glioblastoma (PMID: 21668414). 21668414
PTEN loss head and neck squamous cell carcinoma predicted - sensitive AZD8055 Preclinical - Cell culture Actionable In a preclinical study, treatment with AZD8055 resulted in antiproliferative activity in head and neck squamous cell carcinoma cells harboring PTEN loss in culture (PMID: 28446642). 28446642
PTEN loss head and neck squamous cell carcinoma predicted - sensitive BEZ235 Preclinical - Cell culture Actionable In a preclinical study, BEZ235 resulted in antiproliferative activity in head and neck squamous cell carcinoma cells harboring PTEN loss in culture (PMID: 28446642). 28446642
PTEN loss prostate cancer sensitive Panulisib Preclinical - Cell line xenograft Actionable In a preclinical study, Panulisib (P7170) inhibited tumor growth in PTEN null prostate cancer cell xenograft models (PMID: 25700704). 25700704
PTEN loss diffuse large B-cell lymphoma predicted - sensitive Idelalisib + MK2206 Preclinical - Cell culture Actionable In a preclinical study, MK2206 partially restored sensitivity to Zydelig (idelalisib) in diffuse large B-cell lymphoma cells harboring PTEN loss with acquired resistance to Zydelig (idelalisib), resulting in increased apoptosis in culture (PMID: 28178345). 28178345
PTEN loss brain glioma sensitive Gedatolisib Preclinical Actionable In a preclinical study, Gedatolisib (PKI-587) inhibited growth of human glioma cells with PTEN loss in culture (PMID: 21325073). 21325073
PTEN loss triple-receptor negative breast cancer sensitive AZD6482 + Veliparib Preclinical - Cell culture Actionable In a preclinical study, the combination of Veliparib (ABT-888) and AZD6482 inhibited growth of triple-negative breast cancer cell lines with PTEN loss in culture (Mol Cancer Res Feb 2016 14; B12). detail...
PTEN loss triple-receptor negative breast cancer sensitive AZD6482 + Talazoparib Preclinical Actionable In a preclinical study, the combination of Talazoparib (BMN-673) and AZD6482 inhibited growth of triple-negative breast cancer cell lines with PTEN loss in culture (Mol Cancer Res, Feb 2016 14; B12). detail...
PTEN loss renal carcinoma decreased response Gedatolisib Preclinical Actionable In a preclinical study, human renal carcinoma cells with PTEN loss had a decreased response to Gedatolisib (PKI-587) in culture (PMID: 21325073). 21325073
PTEN loss prostate cancer sensitive GS-9820 Preclinical - Cell line xenograft Actionable In a preclinical study, Acalisib (GS-9820) resulted in tumor growth inhibition in xenograft models of prostate cancer with PTEN deficiency (Mol Cancer Ther 2009;8(12 Suppl):B136). detail...
PTEN loss acute lymphocytic leukemia sensitive BGT226 Preclinical - Cell culture Actionable In a preclinical study, BGT226 treatment in PTEN-deficient acute lymphoblastic leukemia cells resulted in inhibition of PI3K/Akt signaling and apoptotic activity in culture (PMID: 23705826). 23705826
PTEN loss diffuse large B-cell lymphoma predicted - sensitive GSK2334470 + Idelalisib Preclinical - Cell culture Actionable In a preclinical study, GSK2334470 partially restored sensitivity to Zydelig (idelalisib) in diffuse large B-cell lymphoma cells harboring PTEN loss that acquired resistance to Zydelig (idelalisib), resulting in increased apoptosis in culture (PMID: 28178345). 28178345
PTEN loss transitional cell carcinoma resistant Everolimus Phase II Actionable In a Phase II trial, 57% (8/14) of transitional cell carcinoma patients that demonstrated uncontrolled disease after treatment with Afinitor (everolimus) harbored PTEN loss compared to 0% of patients with controlled disease demonstrating no evidence of PTEN loss (PMID: 22473592). 22473592
PTEN loss head and neck squamous cell carcinoma predicted - sensitive rigosertib Phase I Actionable In a Phase I trial in patients with advanced solid tumors, Estybon (rigosertib) treatment resulted in responses in 2 patients with head and neck squamous cell carcinoma (1 complete response and 1 partial response), 1 harboring PIK3CA amplification and the other harboring PTEN loss (Cancer Res April 15 2013 (73) (8 Supplement) LB-198). detail...
PTEN loss prostate cancer predicted - sensitive AR-mTOR-26 Preclinical - Cell line xenograft Actionable In a preclinical study, AR-mTOR-26 treatment resulted in antitumor activity in prostate cancer xenograft models with PTEN loss (Cancer Res 2010;70(8 Suppl):Abstract nr 4484). detail...
PTEN loss prostate cancer sensitive GSK2636771 Preclinical Actionable In a preclinical study, GSK2636771 inhibited viability of prostate cancer cell lines harboring PTEN deficiency in culture (PMID: 23674493). 23674493
PTEN loss ovarian mucinous neoplasm decreased response KX2-391 Preclinical Actionable In a preclincal study, mucinous ovarian carcinoma cell lines harboring PTEN loss were less sensitive to KX2-391 induced growth inhibition in culture and tumor suppression in xenograft models (PMID: 24100628). 24100628
PTEN loss glioblastoma multiforme sensitive CCT128930 Preclinical - Cell line xenograft Actionable In preclinical studies, CCT128930 prevented tumor growth in a PTEN-null human glioblastoma cell line xenograft model (PMID: 21191045). 21191045
PTEN loss triple-receptor negative breast cancer sensitive AZD6482 + Niraparib Preclinical - Cell culture Actionable In a preclinical study, the combination of Zejula (niraparib) and AZD6482 inhibited growth of triple-negative breast cancer cell lines with PTEN loss in culture (Mol Cancer Res Feb 2016 14; B12). detail...
PTEN loss prostate cancer sensitive SF1126 Preclinical - Cell line xenograft Actionable In a preclinical study, a glioblastoma cell line harboring PTEN loss (PMID: 24634413) was sensitive to SF1126, demonstrating a 76% decrease in tumor growth in cell line xenograft models (PMID: 18172313). 18172313 24634413
PTEN loss breast adenocarcinoma sensitive SAR245409 Preclinical - Cell culture Actionable In a preclinical study, a breast adenocarcinoma cell line harboring PTEN loss was sensitive to XL765 (SAR245409), demonstrating inhibition of cell proliferation in culture (PMID: 24634413). 24634413
PTEN loss glioblastoma multiforme sensitive LY3023414 Preclinical - Cell line xenograft Actionable In a preclinical study, LY3023414 inhibited Pi3k/mTor signaling and proliferation in PTEN deficient glioblastoma cells in culture, and resulted in tumor growth inhibition in cell line xenograft models (PMID: 27439478). 27439478
BRAF V600E/K PTEN loss Advanced Solid Tumor predicted - sensitive PX-866 + Vemurafenib Phase I Actionable In a Phase I trial, the combination therapy of PX-866 and Zelboraf (vemurafenib) demonstrated safety and resulted in an objective response in 28% (5/18) of advanced solid tumor patients harboring BRAF V600E or K, and of those five patients, 80% (4/5) also demonstrated loss of PTEN (PMID: 29051322). 29051322
PTEN loss VHL loss renal carcinoma decreased response Gedatolisib Preclinical Actionable In a preclinical study, human renal carcinoma cells with PTEN loss and VHL loss had a decreased response to Gedatolisib (PKI-587) in culture (PMID: 21325073). 21325073
EGFR amp PTEN loss glioblastoma multiforme decreased response Dacomitinib Preclinical - Pdx & cell culture Actionable In a preclinical study, patient-derived EGFR amplified glioblastoma cells harboring PTEN loss demonstrated reduced sensitivity to Vizimpro (dacomitinib) induced growth inhibition in culture and in xenograft models (PMID: 25939761). 25939761
PTEN loss RB1 loss triple-receptor negative breast cancer no benefit Palbociclib + Pictilisib Preclinical Actionable In a preclinical study, the combination of Ibrance (palbociclib) and Pictilisib (GDC-0941) did not improve growth inhibition compared to single drug treatment in triple-receptor negative breast cancer cell lines harboring PTEN and RB1 loss in culture (PMID: 27020857). 27020857
PTEN loss RB1 loss triple-receptor negative breast cancer resistant Pictilisib Preclinical Actionable In a preclinical study, a triple-receptor negative breast cancer line harboring PTEN and RB1 loss was resistant to Pictilisib (GDC-0941) induced growth inhibition in culture (PMID: 27020857). 27020857
PTEN loss RB1 loss triple-receptor negative breast cancer resistant Palbociclib Preclinical Actionable In a preclinical study, a triple-receptor negative breast cancer line harboring PTEN and RB1 loss was resistant to Ibrance (palbociclib) induced growth inhibition in culture (PMID: 27020857). 27020857
PIK3CA H1047R PTEN E307K breast cancer sensitive BAY1125976 Preclinical - Cell culture Actionable In a preclinical study, BAY1125976 inhibited proliferation of a breast cancer cell line harboring PIK3CA H1047R and PTEN E307K in culture (PMID: 27699769). 27699769
KRAS G12D PIK3CA H1047R PTEN R130G endometrial cancer sensitive Selumetinib Preclinical - Pdx Actionable In a preclinical study, treatment with Selumetinib (AZD6244) slowed growth of tumors in patient-derived xenograft models of endometrial cancer harboring KRAS G12D, PIK3CA H1047R, PTEN R130G (PMID: 26232337). 26232337
KRAS G12D PIK3CA H1047R PTEN R130G endometrial cancer sensitive Selumetinib + BEZ235 Preclinical - Pdx Actionable In a preclinical study, treatment with the combination of Selumetinib (AZD6244) and BEZ235 resulted in stable disease in patient-derived xenograft (PDX) models of endometrial cancer harboring KRAS G12D, PIK3CA H1047R, and PTEN R130G, and demonstrated improved efficacy over either agent alone (PMID: 26232337). 26232337
KRAS G12D PIK3CA H1047R PTEN R130G endometrial cancer sensitive BEZ235 Preclinical - Pdx Actionable In a preclinical study, treatment with BEZ235 slowed growth of tumors in patient-derived xenograft models of endometrial cancer harboring KRAS G12D, PIK3CA H1047R, PTEN R130G (PMID: 26232337). 26232337
PIK3CA D350G PIK3CA R93W PTEN R130G endometrial cancer sensitive ARQ092 Preclinical - Pdx Actionable In a preclinical study, a patient-derived xenograft (PDX) model of endometrial cancer harboring PIK3CA D350G, PIK3CA R93W, and PTEN R130G was sensitive to ARQ092, demonstrating greater than 90% inhibition of tumor growth (PMID: 26469692). 26469692
EGFR act mut EGFR A289T PTEN I253N PTEN N69D glioblastoma multiforme sensitive Gefitinib + Linsitinib Preclinical Actionable In a preclinical study, Iressa (gefitinib) and Linsitinib (OSI-906) worked synergistically to inhibit survival of glioblastoma cell lines harboring mutations in EGFR (EGFRvIII, A289T) and PTEN (I253N, N69D) in culture (PMID: 26561558). 26561558
EGFR act mut EGFR A289T PTEN I253N PTEN N69D glioblastoma multiforme sensitive BMS-754807 + Dacomitinib Preclinical - Cell culture Actionable In a preclinical study, Vizimpro (dacomitinib) and BMS-754807 worked synergistically to inhibit survival of glioblastoma cell lines harboring EGFR (A289T, EGFRvIII) and PTEN (N69D, I253N) mutations in culture (PMID: 26561558). 26561558
PTEN N48I urinary bladder cancer decreased response Pictilisib Preclinical - Cell culture Actionable In a preclinical study, Pictilisib (GDC-0941) demonstrated limited inhibition of Akt phosphorylation and growth in bladder cancer cells harboring PTEN N48I in culture (PMID: 28808038). 28808038
PTEN C136Y breast cancer resistant Alpelisib Preclinical - Cell culture Actionable In a preclinical study, breast cancer cells harboring PTEN C136Y demonstrated resistance to Alpelisib (BYL719) in culture (PMID: 27604488). 27604488
PTEN wild-type melanoma sensitive E6201 Preclinical Actionable In a preclinical study, E6201 inhibited proliferation of several melanoma cell lines in culture and sensitivity was associated with wild-type PTEN (PMID: 23039341). 23039341
PTEN wild-type ovarian mucinous neoplasm sensitive KX2-391 Preclinical Actionable In a preclinical study, KX2-391 inhibited survival of PTEN wild-type mucinous ovarian carcinoma cell lines in culture, and reduced tumor growth in xenograft models (PMID: 24100628). 24100628
PTEN wild-type glioblastoma multiforme sensitive 2-Methoxyestradiol Preclinical Actionable In a preclinical study, 2-Methoxyestradiol (2ME2) inhibited tumor-induced angiogenesis and reduced tumor growth in PTEN reconstituted GBM cell lines and mouse models (PMID: 24162827). 24162827
PTEN wild-type uterine cancer decreased response GSK2256098 Preclinical Actionable In a preclinical study, GSK2256098 treatment resulted in a decreased response in uterine cancer cells with PTEN wild-type versus uterine cancer cells harboring a PTEN mutation (PMID: 25833835). 25833835
PTEN wild-type ovarian mucinous neoplasm sensitive KX2-391 + Oxaliplatin Preclinical Actionable In a preclinical study, KX2-391 and Eloxatin (oxaliplatin) synergistically inhibited survival of PTEN wild-type mucinous ovarian carcinoma cell lines in culture, and reduced tumor growth in xenograft models (PMID: 24100628). 24100628
PIK3CA act mut PTEN wild-type breast cancer sensitive Everolimus Preclinical - Cell culture Actionable In a preclinical study, 8/9 breast cancer cell lines harboring a PIK3CA activating mutation and PTEN wild-type demonstrated sensitivity to treatment with Afinitor (everolimus) in culture, resulting in decreased cell viability (PMID: 21358673). 21358673
PIK3CA act mut PTEN wild-type breast cancer sensitive Torkinib Preclinical - Cell culture Actionable In a preclinical study, 9/9 breast cancer cell lines harboring a PIK3CA activating mutation and PTEN wild-type demonstrated sensitivity to treatment with Torkinib (PP242) in culture, resulting in decreased cell viability (PMID: 21358673). 21358673
BRAF mut PTEN wild-type melanoma no benefit AZD6482 + NVP-AEW541 Preclinical Actionable In a preclinical study, AZD6482 and NVP-AEW541 combination treatment did not enhance growth inhibition compared to single agent in PTEN wild-type melanoma cell lines harboring BRAF mutations in culture (PMID: 26577700). 26577700
BRAF mut PTEN wild-type melanoma no benefit AZD6482 + LGX818 Preclinical Actionable In a preclinical study, AZD6482 and Encorafenib (LGX818) combination treatment did not enhance growth inhibition compared to single agent in PTEN wild-type melanoma cell lines harboring BRAF mutations in culture (PMID: 26577700). 26577700
BRAF mut PTEN wild-type melanoma no benefit GSK2636771 + NVP-AEW541 Preclinical Actionable In a preclinical study, GSK2636771 and NVP-AEW541 combination treatment did not enhance growth inhibition compared to single agent in PTEN wild-type melanoma cell lines harboring BRAF mutations in culture (PMID: 26577700). 26577700
BRAF mut PTEN wild-type melanoma no benefit AZD6482 + Binimetinib Preclinical Actionable In a preclinical study, AZD6482 and Binimetinib (MEK162) combination treatment did not enhance growth inhibition compared to single agent in PTEN wild-type melanoma cell lines harboring BRAF mutations in culture (PMID: 26577700). 26577700
BRAF mut PTEN wild-type melanoma no benefit GSK2636771 + LGX818 Preclinical Actionable In a preclinical study, GSK2636771 and Encorafenib (LGX818) combination treatment did not enhance growth inhibition compared to single agent in PTEN wild-type melanoma cell lines harboring BRAF mutations in culture (PMID: 26577700). 26577700
BRAF mut PTEN wild-type melanoma no benefit GSK2636771 + Binimetinib Preclinical Actionable In a preclinical study, GSK2636771 and Binimetinib (MEK162) combination treatment did not enhance growth inhibition compared to single agent in PTEN wild-type melanoma cell lines harboring BRAF mutations in culture (PMID: 26577700). 26577700
BRAF mut PTEN wild-type melanoma sensitive E6201 Preclinical - Cell line xenograft Actionable In a preclinical study, E6201 resulted in a cytocidal response in PTEN wild-type melanoma cell lines harboring BRAF mutations in culture and inhibited tumor growth in cell line xenograft models (PMID: 23039341). 23039341
KRAS G12V PTEN K6fs prostate cancer sensitive BAY1125976 Preclinical - Cell culture Actionable In a preclinical study, BAY1125976 inhibited proliferation of a prostate cancer cell line harboring KRAS G12V and PTEN K6fs*4 in culture (PMID: 27699769). 27699769
BRAF mut PTEN mut melanoma predicted - sensitive ST-162 Preclinical - Cell line xenograft Actionable In a preclinical study, ST-162 resulted in tumor regression in a melanoma cell line xenograft model co-harboring mutations in BRAF and PTEN (PMID: 28775144). 28775144
BRAF mut PTEN mut melanoma decreased response E6201 Preclinical - Cell line xenograft Actionable In a preclinical study, E6201 resulted in a cytostatic response in melanoma cell lines harboring both BRAF and PTEN mutations in culture and only inhibited tumor growth at very high doses in cell line xenograft models (PMID: 23039341). 23039341
PIK3CA E365K PTEN mut endocervical carcinoma sensitive BEZ235 Preclinical Actionable In a preclinical study, BEZ235 inhibited proliferation of endometrial cancer cells harboring PIK3CA E365K and PTEN mutations in culture (PMID: 22662154). 22662154
PIK3CA E365K PTEN mut endometrial cancer sensitive BEZ235 Preclinical Actionable In a preclinical study, BEZ235 inhibited proliferation of endometrial cancer cells harboring PIK3CA E365K and PTEN mutations in culture (PMID: 22662154). 22662154
PIK3CA R108H PTEN mut endometrial cancer sensitive BEZ235 Preclinical Actionable In a preclinical study, BEZ235 inhibited proliferation of endometrial cancer cells harboring PIK3CA R108H and PTEN mutations in culture (PMID: 22662154). 22662154
ERBB2 pos PTEN mut Her2-receptor positive breast cancer predicted - sensitive BKM120 + Trastuzumab Phase I Actionable In a Phase I clinical trial, the combination of Buparlisib (BKM120) and Herceptin (trastuzumab) was well tolerated and resulted in some preliminary efficacy in patients with ERBB2 (HER2)-positive breast cancer harboring PIK3CA activating mutations and/or PTEN mutations that had progressed on Herceptin (trastuzumab)-based therapy (PMID: 24470511). 24470511
PIK3CA R88Q PTEN mut KRAS G12V endometrial cancer decreased response BEZ235 Preclinical Actionable In a preclinical study, endometrial cancer cells harboring PIK3CA R88Q. PTEN mutations, and KRAS G12V demonstrated decreased sensitivity to BEZ235 compared with cells without KRAS mutations in culture (PMID: 22662154). 22662154
PIK3CA R88Q PTEN mut KRAS G12V endometrial cancer decreased response Everolimus Preclinical Actionable In a preclinical study, endometrial cancer cells harboring PIK3CA R88Q. PTEN mutations, and KRAS G12V demonstrated decreased sensitivity to Afinitor (everolimus) compared with cells without KRAS mutations in culture (PMID: 22662154). 22662154
PIK3CA R38C PTEN mut endometrial cancer sensitive BEZ235 Preclinical Actionable In a preclinical study, BEZ235 decreased growth of endometrial cancer cells harboring PIK3CA R38C and PTEN mutations in culture and in xenograft models (PMID: 22662154). 22662154
PTEN mut RB1 mut SMAD4 mut TP53 mut skin cancer sensitive Sapanisertib Preclinical Actionable In a preclinical study, a skin cancer cell line harboring mutations in PTEN, RB1, SMAD4 and TP53 demonstrated sensitivity to Sapanisertib (MLN0128) in culture (PMID: 25261369). 25261369
PIK3CA R88Q PTEN mut endometrial cancer sensitive BEZ235 Preclinical Actionable In a preclinical study, BEZ235 inhibited proliferation of endometrial cancer cells harboring PIK3CA R88Q and PTEN mutations in culture (PMID: 22662154). 22662154
PIK3CA R88Q PTEN mut endometrial cancer sensitive Everolimus Preclinical Actionable In a preclinical study, Afinitor (everolimus) inhibited proliferation of endometrial cancer cells harboring PIK3CA R88Q and PTEN mutations in culture (PMID: 22662154). 22662154
PTEN mutant TP53 mutant skin cancer sensitive Sapanisertib Preclinical Actionable In a preclinical study, a skin cancer cell line harboring mutations in PTEN and TP53 demonstrated sensitivity to Sapanisertib (MLN0128) in culture (PMID: 25261369). 25261369
PTEN mutant TP53 mutant glioblastoma multiforme sensitive Navitoclax + ONC201 Preclinical - Cell culture Actionable In a preclinical study, the combination of ONC201 (TIC10) and Navitoclax (ABT-263) increased apoptosis and worked synergistically to inhibit proliferation of a glioblastoma cell line harboring mutations in PTEN and TP53 in culture (PMID: 26474387). 26474387
BRAF V600E PTEN mut melanoma sensitive ASN003 Preclinical - Cell line xenograft Actionable In a preclinical study, a melanoma cell line xenograft model co-harboring BRAF V600E and a PTEN mutation demonstrated tumor growth inhibition when treated with ASN003 (Mol Cancer Ther 2015;14(12 Suppl 2):Abstract nr B100). detail...
PTEN mutant endometrial cancer resistant TGX-221 Preclinical Actionable In a preclinical study, endometrioid endometrial cancer cell lines harboring PTEN mutations demonstrated resistance to TGX-221 induced growth inhibition in culture (PMID: 23674493). 23674493
PTEN mutant melanoma sensitive BI-69A11 Preclinical - Cell line xenograft Actionable In a preclinical study, BI-69A11 resulted in antitumor activity in a melanoma cell line harboring a PTEN mutation, including induction of cell death in culture, and in xenograft models, tumor growth inhibition and tumor regression (PMID: 19175524). 19175524
PTEN mutant breast cancer predicted - sensitive MS417 + Pictilisib Preclinical - Cell culture Actionable In a preclinical study, Pictilisib (GDC-0941) and MS417 in combination resulted in improved growth inhibition and increased cell death compared to either agent alone in a PTEN-mutant breast cancer cell line in culture (PMID: 26058079). 26058079
PTEN mutant breast cancer sensitive Sapanisertib Preclinical Actionable In a preclinical study, Sapanisertib (MLN0128) induced apoptosis and inhibited MTORC1 signaling in breast cancer cells harboring a PTEN mutation (PMID: 25261369). 25261369
PTEN mutant endometrial cancer sensitive A66 + GSK2636771 Preclinical Actionable In a preclinical study, A66 and GSK2636771 combination treatment inhibited viability of endometrioid endometrial cancer cell lines harboring PTEN mutations in culture (PMID: 23674493). 23674493
PTEN mutant breast cancer sensitive CUDC-907 Preclinical - Cell culture Actionable In a preclinical study, CUDC-907 inhibited growth of breast cancer cells lines harboring Pten mutations and/or deletions (PMID: 22693356). 22693356
PTEN mutant uterine cancer sensitive GSK2256098 + Paclitaxel Preclinical Actionable In a preclinical study, uterine cancer cells harboring a PTEN mutation were more sensitive to the combination of GSK2256098 and Taxol (paclitaxel) than uterine cancer cells wild-type for PTEN, resulting in decreased tumor growth in culture and in mouse models (PMID: 25833835). 25833835
PTEN mutant endometrial cancer no benefit Temsirolimus Phase II Actionable In a retrospective study of a Phase II trial, mutation status of PTEN was not associated with progression-free survival or response rate in advanced endometrial cancer patients treated with Torisel (temsirolimus) (PMID: 27016228). 27016228
PTEN mutant endometrial cancer sensitive A66 + AZD6482 Preclinical Actionable In a preclinical study, A66 and AZD6482 combination treatment inhibited viability of endometrioid endometrial cancer cell lines harboring PTEN mutations in culture (PMID: 23674493). 23674493
PTEN mutant endometrial cancer sensitive BEZ235 Preclinical Actionable In a preclinical study, BEZ235 decreased growth of endometrial cancer cells harboring a PTEN nonsense mutation in culture and in xenograft models (PMID: 22662154). 22662154
PTEN mutant endometrial cancer resistant A66 Preclinical Actionable In a preclinical study, endometrioid endometrial cancer cell lines harboring PTEN mutations demonstrated resistance to A66 induced growth inhibition in culture (PMID: 23674493). 23674493
PTEN mutant endometrial cancer resistant AZD6482 Preclinical Actionable In a preclinical study, endometrioid endometrial cancer cell lines harboring PTEN mutations demonstrated resistance to AZD6482 induced growth inhibition in culture (PMID: 23674493). 23674493
PTEN mutant endometrial cancer sensitive GDC-0980 Phase II Actionable In a Phase II trial, Apitolisib (GDC-0980) was poorly tolerated, but demonstrated efficacy in endometrial cancer patients harboring mutations in PIK3CA, PTEN, or AKT1 (J Clin Oncol 32:5s, 2014 (suppl; abstr 5513)). detail...
PTEN mutant head and neck squamous cell carcinoma resistant Taselisib Preclinical - Cell line xenograft Actionable In a preclinical study, head and neck squamous cell carcinoma cell lines and cell line xenograft models with PTEN alterations were resistant to the apoptotic effects of Taselisib (GDC-0032) (PMID: 26589432). 26589432
PTEN mutant endometrial cancer sensitive Everolimus Preclinical - Cell line xenograft Actionable In a preclinical study, Afinitor (everolimus) inhibited growth of endometrial cancer cells harboring a PTEN nonsense mutation in culture and in xenograft models (PMID: 22662154). 22662154
PTEN mutant endometrial cancer resistant GSK2636771 Preclinical Actionable In a preclinical study, endometrioid endometrial cancer cell lines harboring PTEN mutations demonstrated resistance to GSK2636771 induced growth inhibition in culture (PMID: 23674493). 23674493
PTEN mutant uterine cancer sensitive GSK2256098 Preclinical Actionable In a preclinical study, uterine cancer cells harboring a PTEN mutation demonstrated sensitivity to GSK2256098, resulting in inhibition of Ptk2 (Fak) phosphorylation, decreased tumor growth, and apoptosis both in culture and in mouse models (PMID: 25833835). 25833835
PTEN mutant uterine cancer sensitive GSK2256098 + Topotecan Preclinical Actionable In a preclinical study, uterine cancer cells harboring a PTEN mutation were more sensitive to the combination of GSK2256098 and Hycamtin (topotecan) than uterine cancer cells wild-type for PTEN, resulting in decreased tumor growth in culture and in mouse models (PMID: 25833835). 25833835
PTEN mutant triple-receptor negative breast cancer predicted - sensitive Ipatasertib + Paclitaxel Phase II Actionable In a Phase II trial, Ipatasertib (GDC-0068) in combination with Abraxane (paclitaxel) resulted in improved progression free survival (6.2 vs 4.9 months) compared to placebo in triple-receptor negative breast cancer patients harboring mutations in PIK3CA, AKT1, or PTEN (J Clin Oncol 35, 2017 (suppl; abstr 1009)). detail...
ERBB2 amp PTEN dec exp Her2-receptor positive breast cancer decreased response CDX-3379 Preclinical Actionable In a preclinical study, knockdown of PTEN expression resulted in a decreased response to treatment with CDX-3379 (KTN3379) in ERBB2 (HER2)-amplified breast cancer cells in culture (PMID: 26880266). 26880266
KRAS G12D PTEN dec exp TP53 R306* colorectal cancer no benefit MLN0128 + PD-0325901 Preclinical - Pdx Actionable In a preclinical study, Sapanisertib (MLN0128) and PD-0325901 combination treatment did not result in tumor growth stabilization in patient-derived xenograft models of colorectal cancer harboring KRAS G12D, decreased PTEN expression, and TP53 R306* (PMID: 26272063). 26272063
PTEN dec exp renal cell carcinoma no benefit Everolimus Phase II Actionable In a retrospective analysis from a Phase II clinical trial, patients with metastatic renal cell carcinoma treated with Afinitor (everolimus) had no difference in progression free survival when stratified by high expression (n=17) and low expression (n=21) of Pten (PMID: 26951309). 26951309
PTEN dec exp triple-receptor negative breast cancer predicted - sensitive Ipatasertib + Paclitaxel Phase II Actionable In a Phase II trial, Ipatasertib (GDC-0068) in combination with Abraxane (paclitaxel) resulted in improved progression free survival (6.2 vs 4.9 months) compared to placebo in triple-receptor negative breast cancer patients with low Pten expression (J Clin Oncol 35, 2017 (suppl; abstr 1009)). detail...
PTEN dec exp melanoma sensitive SAR260301 Preclinical - Cell line xenograft Actionable In a preclinical study, SAR260301 inhibited tumor growth in xenograft models of melanoma cell lines harboring PTEN deficiency (PMID: 24387221). 24387221
PTEN dec exp Advanced Solid Tumor sensitive GSK2636771 Phase Ib/II Actionable In a Phase I/II trial, GSK2636771 treatment inhibited Akt signaling, and resulted in partial response in 2% (1/53) and stable disease in 25% (13/53) of patients with PTEN-deficient advanced solid tumors (J Clin Oncol 32:5s, 2014 (suppl; abstr 2514)). detail...
PTEN dec exp renal cell carcinoma no benefit GDC-0980 Phase II Actionable In a retrospective analysis from a Phase II clinical trial, patients with metastatic renal cell carcinoma treated with Apitolisib (GDC-0980) had no difference in progression free survival when stratified by high expression (n=17) and low expression (n=19) of Pten (PMID: 26951309). 26951309
PTEN dec exp Advanced Solid Tumor predicted - sensitive Pemetrexed + Sorafenib Phase I Actionable In a Phase I clinical trial, low Pten expression or lack of Pten expression was associated with better response to treatment with the combination of Alimta (pemetrexed) and Nexavar (sorafenib) in patients with advanced solid tumors (PMID: 27213589). 27213589
PIK3CA act mut PTEN dec exp renal cell carcinoma no benefit GDC-0980 Phase II Actionable In a retrospective analysis from a Phase II clinical trial, patients with metastatic renal cell carcinoma treated with Apitolisib (GDC-0980) had no difference in progression free survival when stratified by the presence (n=21) or absence (n=15) of PIK3CA activating mutation or loss of Pten expression (PMID: 26951309). 26951309
PIK3CA act mut PTEN dec exp renal cell carcinoma no benefit Everolimus Phase II Actionable In a retrospective analysis from a Phase II clinical trial, patients with metastatic renal cell carcinoma treated with Afinitor (everolimus) had no difference in progression free survival when stratified by the presence (n=21) or absence (n=17) of PIK3CA activating mutations (PMID: 26951309). 26951309
ERBB2 pos PTEN dec exp Her2-receptor positive breast cancer decreased response Trastuzumab Clinical Study Actionable In a clinical study, ERBB2 (HER2)-positive breast cancer patients with PI3K pathway activation resulting from low PTEN expression and/or PIK3CA activating mutations demonstrated decreased progression-free survival following treatment with Herceptin (trastuzumab) compared to patients without PI3K pathway activation (PMID: 17936563). 17936563
PTEN V54fs glioblastoma multiforme sensitive XL147 Preclinical - Cell line xenograft Actionable In a preclinical study, XL147 inhibited tumor growth in xenograft models of a human glioblastoma cell line harboring PTEN V54fs (PMID: 25637314). 25637314
BRAF V600X PTEN neg melanoma sensitive GSK2141795 Preclinical - Cell culture Actionable In a preclinical study, lack of PTEN expression was associated with increased sensitivity to GSK2141795 in BRAF V600-mutant melanoma cell lines in culture (PMID: 24265152). 24265152
PTEN negative Advanced Solid Tumor sensitive Talazoparib Preclinical - Cell culture Actionable In a preclinical study, PTEN-deficient cancer cell lines with DNA repair deficiency demonstrated high sensitivity to the PARP inhibitor, Talazoparib (BMN-673) (PMID: 23881923). 23881923
PTEN negative glioblastoma multiforme no benefit Vandetanib + Temozolomide Phase II Actionable In a Phase II trial, Caprelsa (vandetinib), in combination with radiation therapy and Temodar (temozolomide), demonstrated no difference in PFS and OS when compared between glioblastoma patients negative for PTEN versus those positive for PTEN (PMID: 25910950). 25910950
PTEN negative lung squamous cell carcinoma sensitive Buparlisib Phase II Actionable In a Phase II trial, one patient with Pten negative squamous NSCLC had a partial response to Buparlisib (BKM120) however, stage 2 of the study was not initiated due to failure of meeting overall stage 1 response endpoints (PMID: 26098748). 26098748