Gene Detail

Gene Symbol PTPN11
Synonyms BPTP3 | CFC | JMML | METCDS | NS1 | PTP-1D | PTP2C | SH-PTP2 | SH-PTP3 | SHP2
Gene Description PTPN11, tyrosine-protein phosphatase non-receptor type 11, is a member of the PTP Src homology-2 (SH2) domain-containing phosphatases that induces the MAPK signal transduction pathway to regulate growth factor signaling and has been characterized as both an oncogene and tumor suppressor (PMID: 20337577, PMID: 28074573). PTPN11 activating mutations have been identified in a variety of tumors including, lung, colon, brain, thyroid, skin and heme (PMID: 18286234, PMID: 21407260) and germline mutations are implicated in Noonan syndrome (PMID: 28328117).
Entrez Id 5781
Chromosome 12
Map Location 12q24.13
Canonical Transcript NM_001330437

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
G13D missense unknown PTPN11 G13D lies within the SH2 domain 1 of the Ptpn11 protein (UniProt.org). G13D has not been characterized in the scientific literature and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Feb 2018).
T468M missense loss of function PTPN11 T468M (corresponding to T472M in the canonical isoform) lies within the Tyrosine-protein phosphatase domain of the Ptpn11 protein (UniProt.org). T468M results in reduced Ptpn11 activity and inhibition of Erk activation in cell culture (PMID: 16377799).
I54T missense unknown PTPN11 I54T lies within the SH2 domain 1 of the Ptpn11 protein (UniProt.org). I54T has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Feb 2018).
F341Y missense unknown PTPN11 F341Y lies within the tyrosine-protein phosphatase domain of the Ptpn11 protein (UniProt.org). F341Y has not been characterized in the scientific literature and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Feb 2018).
K55N missense unknown PTPN11 K55N lies within the SH2 domain 1 of the Ptpn11 protein (UniProt.org). K55N has not been characterized in the scientific literature and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Feb 2018).
A72S missense gain of function - predicted PTPN11 A72S lies within the SH2 domain 1 of the Ptpn11 protein (UniProt.org). A72S is predicted to confer a gain of function to the Ptpn11 protein, as demonstrated by increased substrate dephosphorylation in an in-vitro assay (PMID: 16358218).
E76A missense gain of function - predicted PTPN11 E76A lies within the SH2 1 domain of the Ptpn11 protein (UniProt.org). E76A is predicted to confer a gain of function to the Ptpn11 protein, as demonstrated by increased activity of protein tyrosine phosphatase in cell culture (PMID: 15834506).
Q79R missense unknown PTPN11 Q79R lies within the SH2 1 domain of the Ptpn11 protein (UniProt.org). Q79R increases activity of protein tyrosine phosphatase and induces increased proliferation in cell culture (PMID: 16166557), however in another study, Q79R resulted in similar cell proliferation and viability levels as wild-type Ptpn11 (PMID: 29533785).
T337M missense unknown PTPN11 T337M lies within the tyrosine-protein phosphatase domain of the Ptpn11 protein (UniProt.org). T337M has not been characterized in the scientific literature and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Jan 2018).
E123D missense unknown PTPN11 E123D lies within the SH2 domain 2 of the Ptpn11 protein (UniProt.org). E123D has not been characterized in the scientific literature and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Feb 2018).
F71L missense unknown PTPN11 F71L lies within the SH2 domain 1 of the Ptpn11 protein (UniProt.org). F71L has been identified in the scientific literature (PMID: 17053061) but has not been biochemically characterized and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Jan 2018).
N58S missense gain of function - predicted PTPN11 N58S lies within the SH2 domain 1 of the Ptpn11 protein (UniProt.org). N58S has not been biochemically characterized, however, has been characterized as activating in a lung cancer cell line (PMID: 23825065).
D106A missense gain of function - predicted PTPN11 D106A does not lie within any known functional domains of the Ptpn11 protein (UniProt.org). D106A is predicted to confer a gain of function to the Ptpn11 protein, as demonstrated by increased phosphatase activity in an in-vitro phosphatase assay (PMID: 15987685).
E76K missense gain of function PTPN11 E76K lies within the SH2 domain 1 of the Ptpn11 protein (UniProt.org). E76K confers a gain of function to the Ptpn11 protein as demonstrated by increased activity of protein tyrosine phosphatase and Erk1/2 and the ability to transform cells in culture (PMID: 17942397).
Q510H missense unknown PTPN11 Q510H lies within the tyrosine-protein phosphatase domain and acts as a substrate binding site (UniProt.org). Q510H has been identified in sequencing studies (PMID: 18925961), but has not been biochemically characterized and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Feb 2018).
I282V missense gain of function - predicted PTPN11 I282V lies within the tyrosine-protein phosphatase domain of the Ptpn11 protein (UniProt.org). I282V is predicted to confer a gain of function to the Ptpn11 protein, as demonstrated by increased phosphatase activity in cell culture (PMID: 16358218).
L117F missense unknown PTPN11 L117F lies within the SH2 domain 2 of the Ptpn11 protein (UniProt.org). L117F has not been characterized in the scientific literature and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Feb 2018).
A461T missense loss of function PTPN11 A461T (corresponding to A465T in the canonical isoform) lies within the tyrosine-protein phosphatase domain of the Ptpn11 protein (UniProt.org). A461T results in decreased Ptpn11 activity and inhibition of Erk activation in cell culture (PMID: 16377799).
D155Y missense unknown PTPN11 D155Y lies within the SH2 domain 2 of the Ptpn11 protein (UniProt.org). D155Y has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Feb 2018).
Q510L missense unknown PTPN11 Q510L lies within the tyrosine-protein phosphatase domain of the Ptpn11 protein (UniProt.org). Q510L has been identified in sequencing studies (PMID: 27359055, PMID: 28822769, PMID: 28870692), but has not been biochemically characterized and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Feb 2018).
M504V missense gain of function - predicted PTPN11 M504V (corresponding to M508V in the canonical isoform) lies within the tyrosine-protein phosphatase domain of the Ptpn11 protein (UniProt.org). M504V is predicted to confer a gain of function to the Ptpn11 protein, as demonstrated by increased phosphatase activity in cell culture (PMID: 16358218).
A72D missense gain of function PTPN11 A72D lies within the SH2 domain 1 of the Ptpn11 protein (UniProt.org). A72D confers a gain of function to the Ptpn11 protein as demonstrated by increased phosphatase activity of Ptpn11 and activation of the MAPK and PI3K signaling pathways (J Clin Oncol 32, 2014 (suppl; abstr e22174)).
D61H missense unknown PTPN11 D61H lies within the SH2 domain 1 of the Ptpn11 protein (UniProt.org). D61H has been identified in the scientific literature (PMID: 26456833) but has not been biochemically characterized and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Jan 2018).
E225D missense unknown PTPN11 E225D does not lie within any known functional domains of the Ptpn11 protein (UniProt.org). E225D has not been characterized in the scientific literature and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Feb 2018).
G503V missense gain of function - predicted PTPN11 G503V (corresponding to G507V in the canonical isoform) lies within the tyrosine-protein phosphatase domain of the Ptpn11 protein (UniProt.org). G503V is predicted to confer a gain of function to the Ptpn11 protein, as demonstrated by increased phosphatase activity compared to wild-type Ptpn11 in culture (PMID: 15834506).
Q257L missense unknown PTPN11 Q257L lies within the tyrosine-protein phosphatase domain of the Ptpn11 protein (UniProt.org). Q257L has not been biochemically characterized, however, has been associated with resistance to SHP2 inhibitors in cell culture (PMID: 30045908).
T507K missense gain of function PTPN11 T507K (corresponding to T511K in the canonical isoform) lies within the tyrosine-protein phosphatase domain of the Ptpn11 protein (UniProt.org). T507K confers a gain of function to the Ptpn11 protein as demonstrated by increased activity of protein tyrosine phosphatase and the ability to transform cells in culture (PMID: 18223690).
R498W missense loss of function - predicted PTPN11 R498W (corresponding to R502W in the canonical isoform) lies within the Tyrosine-protein phosphatase domain of the Ptpn11 protein (UniProt.org). R498W demonstrated reduced phosphatase activity compared to wild-type Ptpn11 in an in vitro phosphatase assay (PMID: 24891296).
H114Y missense unknown PTPN11 H114Y lies within the SH2 domain 2 of the Ptpn11 protein (UniProt.org). H114Y has not been characterized in the scientific literature and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Feb 2018).
N308D missense unknown PTPN11 N308D lies within the tyrosine-protein phosphatase domain of the Ptpn11 protein (UniProt.org). N308D results in increased Ptpn11 phosphatase activity and enhanced cell proliferation in culture (PMID: 12717436), however in another study, N308D resulted in similar cell proliferation and viability levels as wild-type Ptpn11 (PMID: 29533785).
P491Q missense unknown PTPN11 P491Q lies within the tyrosine-protein phosphatase domain of the Ptpn11 protein (UniProt.org). P491Q has not been biochemically characterized, however, has been associated with resistance to SHP2 inhibitors (PMID: 30045908). Y
D106Y missense unknown PTPN11 D106Y does not lie within any known functional domains of the Ptpn11 protein (UniProt.org). D106Y has been identified in sequencing studies (PMID: 23856246), but has not been biochemically characterized and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Apr 2018).
F71I missense gain of function - predicted PTPN11 F71I lies within the SH2 1 domain of the Ptpn11 protein (UniProt.org). F71I is predicted to confer a gain of function to the Ptpn11 protein, as demonstrated by increased activity of protein tyrosine phosphatase in cell culture (PMID: 15834506).
T253M missense unknown PTPN11 T253M lies within the tyrosine-protein phosphatase domain of the Ptpn11 protein (UniProt.org). T253M has not been biochemically characterized, however, has been associated with resistance to SHP2 inhibitors in cell culture (PMID: 30045908).
D61Y missense gain of function PTPN11 D61Y lies within the SH2 1 domain of the Ptpn11 protein (UniProt.org). D61Y confers a gain of function to the Ptpn11 protein as demonstrated by increased activity of protein tyrosine phosphatase and increased proliferation in cell culture (PMID: 12717436).
D146Y missense unknown PTPN11 D146Y lies within the SH2 domain 2 of the Ptpn11 protein (UniProt.org). D146Y has not been characterized in the scientific literature and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Feb 2018).
E139D missense no effect - predicted PTPN11 E139D lies within the SH2 domain 2 of the Ptpn11 protein (UniProt.org). E139D has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Ptpn11 (PMID: 29533785).
M82V missense unknown PTPN11 M82V lies within the SH2 domain 1 of the Ptpn11 protein (UniProt.org). M82V has not been characterized in the scientific literature and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Feb 2018).
E76G missense gain of function - predicted PTPN11 E76G lies within the SH2 domain 1 of the Ptpn11 protein (UniProt.org). E76G is predicted to confer a gain of function to the Ptpn11 protein resulting in decreased cell adhesion (PMID: 18559669).
T52S missense unknown PTPN11 T52S lies within the SH2 domain 1 of the Ptpn11 protein (UniProt.org). T52S has not been characterized in the scientific literature and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Feb 2018).
Y62C missense gain of function - predicted PTPN11 Y62C lies within the SH2 1 domain of the Ptpn11 protein (UniProt.org). Y62C is predicted to confer a gain of function to the Ptpn11 protein, as demonstrated by increased phosphatase activity in an in-vitro phosphatase assay (PMID: 15604238).
E69K missense unknown PTPN11 E69K lies within the SH2 domain 1 of the Ptpn11 protein (UniProt.org). E69K results in increased Ptpn11 phosphatase activity in an in vitro assay (PMID: 15604238), however, E69K results in similar cell proliferation and viability levels as wild-type Ptpn11 (PMID: 29533785).
V45L missense gain of function - predicted PTPN11 V45L lies within the SH2 1 domain of the Ptpn11 protein (UniProt.org). V45L is predicted to confer a gain of function to the Ptpn11 protein, as demonstrated by increased phosphatase activity in an in-vitro phosphatase assay (PMID: 15604238).
N339S missense unknown PTPN11 N339S lies within the tyrosine-protein phosphatase domain of the Ptpn11 protein (UniProt.org). N339S has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Feb 2018).
E76Q missense no effect - predicted PTPN11 E76Q lies within the SH2 domain 1 of the Ptpn11 protein (UniProt.org). E76Q has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Ptpn11 (PMID: 29533785).
wild-type none no effect Wild-type PTPN11 indicates that no mutation has been detected within the PTPN11 gene.
L262F missense gain of function PTPN11 L262F lies within the tyrosine-protein phosphatase domain of the Ptpn11 protein (UniProt.org). L262F results in increased Ptpn11 phosphatase activity and increased phosphorylation of ERK in cell culture (PMID: 28074573).
dec exp none no effect PTPN11 dec exp indicates decreased expression of the Ptpn11 protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified.
N58K missense no effect - predicted PTPN11 N58K lies within the SH2 domain 1 of the Ptpn11 protein (UniProt.org). N58K has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Ptpn11 (PMID: 29533785).
G60R missense no effect - predicted PTPN11 G60R lies within the SH2 domain 1 of the Ptpn11 protein (UniProt.org). G60R has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Ptpn11 (PMID: 29533785).
D61G missense gain of function PTPN11 D61G lies within the SH2 1 domain of the Ptpn11 protein (UniProt.org). D61G confers a gain of function to the Ptpn11 protein, as demonstrated by constitutive activation of Ras-Erk signalling (PMID: 18378677), increased cellular adhesion, migration, and invasion in cell culture (PMID: 19008228), and promotes tumor formation in mice (PMID: 26673822).
act mut unknown gain of function PTPN11 act mut indicates that this variant results in a gain of function in the Ptpn11 protein. However, the specific amino acid change has not been identified.
Y279C missense loss of function PTPN11 Y279C lies within the Tyrosine-protein phosphatase domain of the Ptpn11 protein (UniProt.org). Y279C results in decreased Ptpn11 activity, reduced Erk activation in cell culture, and aberrant activation of Akt/mTOR, Jnk and Stat3 in animal models (PMID: 16377799, PMID: 21339643).
T73I missense unknown PTPN11 T73I lies within the SH2 1 domain of the Ptpn11 protein (UniProt.org). T73I increases activity of Ptpn11 in cell culture (PMID: 15834506), however, T73I results in similar cell proliferation and viability levels as wild-type Ptpn11 (PMID: 29533785).
D61N missense gain of function PTPN11 D61N lies within the SH2 1 domain of the Ptpn11 protein (UniProt.org). D61N confers a gain of function to the Ptpn11 protein as demonstrated by increased activity of protein tyrosine phosphatase and increased ERK2 activation in cell culture (PMID: 15834506).
I172T missense unknown PTPN11 I172T lies within the SH2 domain 2 of the Ptpn11 protein (UniProt.org). I172T has not been characterized in the scientific literature and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Feb 2018).
R384C missense unknown PTPN11 R384C lies within the tyrosine-protein phosphatase domain of the Ptpn11 protein (UniProt.org). R384C has not been characterized in the scientific literature and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Feb 2018).
K325T missense unknown PTPN11 K325T lies within the tyrosine-protein phosphatase domain of the Ptpn11 protein (UniProt.org). K325T has not been characterized in the scientific literature and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Feb 2018).
mutant unknown unknown PTPN11 mutant indicates an unspecified mutation in the PTPN11 gene.
V51A missense no effect - predicted PTPN11 V51A lies within the SH2 domain 1 of the Ptpn11 protein (UniProt.org). V51A has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Ptpn11 (PMID: 29533785).
E69D missense unknown PTPN11 E69D lies within the SH2 domain 1 of the Ptpn11 protein (UniProt.org). E69D has not been characterized in the scientific literature and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Feb 2018).
I282M missense unknown PTPN11 I282M lies within the Tyrosine-protein phosphatase domain of the Ptpn11 protein (UniProt.org). I282M has been identified in the scientific literature (PMID: 26817465), but has not been biochemically characterized and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Jan 2018).
V181I missense unknown PTPN11 V181I lies within the SH2 domain 2 of the Ptpn11 protein (UniProt.org). V181I has not been characterized in the scientific literature and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Feb 2018).
A72V missense gain of function - predicted PTPN11 A72V lies within the SH2 domain 1 of the Ptpn11 protein (UniProt.org). A72V is predicted to confer a gain of function to the Ptpn11 protein, as demonstrated by increased substrate dephosphorylation in an in-vitro assay (PMID: 16358218).
L136H missense unknown PTPN11 L136H lies within the SH2 domain 2 of the Ptpn11 protein (UniProt.org). L136H has not been characterized in the scientific literature and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Feb 2018).
R278K missense unknown PTPN11 R278K lies within the tyrosine-protein phosphatase domain of the Ptpn11 protein (UniProt.org). R278K has not been characterized in the scientific literature and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Feb 2018).
Y63C missense gain of function - predicted PTPN11 Y63C lies within the SH2 1 domain of the Ptpn11 protein (UniProt.org). Y63C is predicted to confer a gain of function to the Ptpn11 protein, as demonstrated by increased Ptpn11 phosphatase activity in cell culture (PMID: 22711529).
A72T missense unknown PTPN11 A72T lies within the SH2 domain 1 of the Ptpn11 protein (UniProt.org). A72T has been identified in the scientific literature (PMID: 16518851) but has not been biochemically characterized and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Jan 2018).
G60V missense unknown PTPN11 G60V lies within the SH2 domain 1 of the Ptpn11 protein (UniProt.org). G60V has been identified in the scientific literature (PMID: 18701506, PMID: 28972594), but has not been biochemically characterized and therefore, its effect on Ptpn11 protein function is unknown (PubMed, Jan 2018).
Molecular Profile Protein Effect Treatment Approaches
PTPN11 G13D unknown
PTPN11 T468M loss of function
PTPN11 I54T unknown
PTPN11 F341Y unknown
PTPN11 K55N unknown
PTPN11 A72S gain of function - predicted SHP2 Inhibitor
PTPN11 E76A gain of function - predicted SHP2 Inhibitor
PTPN11 Q79R unknown
PTPN11 T337M unknown
PTPN11 E123D unknown
PTPN11 F71L unknown
PTPN11 N58S gain of function - predicted SHP2 Inhibitor
PTPN11 D106A gain of function - predicted SHP2 Inhibitor
PTPN11 E76K gain of function SHP2 Inhibitor
PTPN11 Q510H unknown
PTPN11 I282V gain of function - predicted SHP2 Inhibitor
PTPN11 L117F unknown
PTPN11 A461T loss of function
PTPN11 D155Y unknown
PTPN11 Q510L unknown
PTPN11 M504V gain of function - predicted SHP2 Inhibitor
PTPN11 A72D gain of function SHP2 Inhibitor
PTPN11 D61H unknown
PTPN11 E225D unknown
PTPN11 G503V gain of function - predicted SHP2 Inhibitor
PTPN11 Q257L unknown
PTPN11 T253M PTPN11 Q257L
PTPN11 T507K gain of function SHP2 Inhibitor
PTPN11 R498W loss of function - predicted
PTPN11 H114Y unknown
PTPN11 N308D unknown
KRAS G12C PTPN11 P491Q
PTPN11 P491Q unknown
PTPN11 D106Y unknown
PTPN11 F71I gain of function - predicted SHP2 Inhibitor
PTPN11 T253M unknown
PTPN11 D61Y gain of function SHP2 Inhibitor
PTPN11 D146Y unknown
PTPN11 E139D no effect - predicted
PTPN11 M82V unknown
PTPN11 E76G gain of function - predicted SHP2 Inhibitor
PTPN11 T52S unknown
PTPN11 Y62C gain of function - predicted SHP2 Inhibitor
PTPN11 E69K unknown
PTPN11 V45L gain of function - predicted SHP2 Inhibitor
PTPN11 N339S unknown
PTPN11 E76Q no effect - predicted
PTPN11 wild-type no effect
PTPN11 L262F gain of function
BRAF mut PTPN11 dec exp
PTPN11 dec exp no effect
PTPN11 N58K no effect - predicted
PTPN11 G60R no effect - predicted
PTPN11 D61G gain of function
PTPN11 act mut gain of function SHP2 Inhibitor
PTPN11 Y279C loss of function
PTPN11 T73I unknown
PTPN11 D61N gain of function SHP2 Inhibitor
PTPN11 I172T unknown
PTPN11 R384C unknown
PTPN11 K325T unknown
PTPN11 mutant unknown
PTPN11 V51A no effect - predicted
PTPN11 E69D unknown
PTPN11 I282M unknown
PTPN11 V181I unknown
PTPN11 A72V gain of function - predicted SHP2 Inhibitor
PTPN11 L136H unknown
PTPN11 R278K unknown
PTPN11 Y63C gain of function - predicted SHP2 Inhibitor
PTPN11 A72T unknown
PTPN11 G60V unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PTPN11 E76K hematologic cancer sensitive II-B08 Preclinical Actionable In a preclinical study, hematopoietic progenitor cells expressing PTPN11 E76K were sensitive to II-B08, resulting in decreased cell proliferation (PMID: 20170098). 20170098
PTPN11 E76K leukemia sensitive PD98059 Preclinical Actionable In a preclinical study, PD98059 induced apoptotic activity of leukemia cells expressing PTPN11 E76K in culture (PMID: 17942397). 17942397
PTPN11 E76K leukemia sensitive U0126 Preclinical Actionable In a preclinical study, U0126 induced apoptotic activity of leukemia cells expressing PTPN11 E76K in culture (PMID: 17942397). 17942397
PTPN11 E76K juvenile myelomonocytic leukemia sensitive cryptotanshinone Preclinical Actionable In a preclinical study, myeloid cells harboring PTPN11 E76K were sensitive to cryptotanshinone in culture, resulting in decreased cell growth (PMID: 23957426). 23957426
PTPN11 T253M PTPN11 Q257L non-small cell lung carcinoma resistant Selumetinib + SHP099 Preclinical - Cell culture Actionable In a preclinical study, pancreatic ductal adenocarcinoma cells co-expressing PTPN11 T253M and PTPN11 Q257L were resistant to the combination therapy, Selumetinib (AZD6244) and SHP099, in culture (PMID: 30045908). 30045908
KRAS G12C PTPN11 P491Q pancreatic ductal adenocarcinoma resistant Selumetinib + SHP099 Preclinical - Cell culture Actionable In a preclinical study, pancreatic ductal adenocarcinoma cells harboring KRAS G12C and expressing PTPN11 P491Q were resistant to the combination therapy, Selumetinib (AZD6244) and SHP099, in culture (PMID: 30045908). 30045908
BRAF mut PTPN11 dec exp colorectal cancer sensitive PLX4720 Preclinical - Cell culture Actionable In a preclinical study, knocking down of Ptpn11 expression via shRNA sensitized BRAF mutant colorectal cancer cell lines to PLX4720 in culture (PMID: 26351322). 26351322
PTPN11 act mut non-small cell lung carcinoma sensitive Refametinib Preclinical Actionable In a preclinical study, Rafemetinib (BAY86-9766) inhibited growth of NSCLC cells harboring activating PTPN11 mutations in culture (J Clin Oncol 33, 2015(Suppl; abstr 11077)). detail...
PTPN11 mutant juvenile myelomonocytic leukemia not applicable N/A Clinical Study Emerging In two clinical studies, PTPN11 mutations were frequently identified in patients with juvenile myelomonocytic leukemia and were found to be associated with poor survival (PMID: 19047918, PMID: 21901340), suggesting that this may serve as a future prognostic biomarker. 21901340 19047918