Gene Detail

Gene Symbol RB1
Synonyms OSRC | p105-Rb | pp110 | PPP1R130 | pRb | RB
Gene Description RB1, retinoblastoma-associated protein, is a key negative regulator of the G1 to S transition during cell division (PMID: 15084261) and also plays a role in cell differentiation, survival, senescence, epigenetic regulation, and genome stability (PMID: 21295686, PMID: 23359405, PMID: 22293180). Inactivation of Rb1 and loss of Rb1 tumor suppressor function has been identified in many early stage cancers (PMID: 26160835).
ACMG Incidental List v2.0:
Yes, Retinoblastoma (PMID: 27854360)
Entrez Id 5925
Chromosome 13
Map Location 13q14.2
Canonical Transcript NM_000321

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A10fs frameshift loss of function - predicted RB1 A10fs results in a change in the amino acid sequence of the Rb1 protein beginning at 10 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), A10fs is predicted to lead to a loss of Rb1 protein function.
R272I missense unknown RB1 R272I does not lie within any known functional domains of the Rb1 protein (UniProt.org). R272I has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
Y659F missense unknown RB1 Y659F lies within domain B of the Rb1 protein (UniProt.org). Y659F has been identified in sequencing studies (PMID: 23917401), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
E137* nonsense loss of function - predicted RB1 E137* results in a premature truncation of the Rb1 protein at amino acid 137 of 928. Due to the loss of all known functional domains (UniProt.org), E137* is predicted to lead to a loss of Rb1 protein function.
C712R missense loss of function RB1 C712R lies within domain B of the Rb1 protein (UniProt.org). C712R results in a loss of Rb1 protein function as demonstrated by reduced Rb1 phosphorylation and inability to bind E2f1 in in vitro assays, and reduced interaction with large T antigen in an yeast assay (PMID: 10486322).
W99* nonsense loss of function - predicted RB1 W99* results in a premature truncation of the Rb1 protein at amino acid 99 of 928 (UniProt.org). Due to the loss of all functional domains (UniProt.org), W99* leads to loss of Rb1 protein function (PMID: 24406863).
H483Y missense unknown RB1 H483Y lies within domain A region of the Rb1 protein (UniProt.org). H483Y has been identified in the scientific literature (PMID: 29236940), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2018).
H483R missense unknown RB1 H483R lies within domain A of the Rb1 protein (UniProt.org). H483R has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
Q62* nonsense loss of function - predicted RB1 Q62* results in a premature truncation of the Rb1 protein at amino acid 62 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q62* is predicted to lead to a loss of Rb1 protein function.
L607I missense loss of function - predicted RB1 L607I lies within the spacer region of the Rb1 protein (UniProt.org). L607I has not been biochemically characterized, but is predicted to confer a loss of function to the Rb1 protein as demonstrated by the inability to induce apoptosis in cultured cells (PMID: 20594292).
L199* nonsense loss of function - predicted RB1 L199* results in a premature truncation of the Rb1 protein at amino acid 199 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), L199* is predicted to lead to a loss of Rb1 protein function.
Q504* nonsense loss of function - predicted RB1 Q504* results in a premature truncation of the Rb1 protein at amino acid 504 of 928 and is a known break point for the formation of Pcm1/Jak2 fusion proteins (UniProt.org). Due to the loss of multiple functional domains, Q504* is predicted to lead to a loss of Rb1 protein function (PMID: 23895135, UniProt.org).
E440K missense unknown RB1 E440K lies within domain A of the Rb1 protein (UniProt.org). E440K has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
R251* nonsense loss of function - predicted RB1 R251* results in a premature truncation of the Rb1 protein at amino acid 251 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R251* is predicted to lead to a loss of Rb1 protein function.
I752S missense unknown RB1 I752S lies within domain B of the Rb1 protein (UniProt.org). I752S has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
Q266* nonsense loss of function - predicted RB1 R266* results in a premature truncation of the Rb1 protein at amino acid 266 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R266* is predicted to lead to a loss of Rb1 protein function.
L657P missense unknown RB1 L657P lies within domain B of the Rb1 protein (UniProt.org). L657P has been identified in the scientific literature (PMID: 10882758), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
S127I missense unknown RB1 S127I does not lie within any known functional domains of the Rb1 protein (UniProt.org). S127I has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
G449E missense unknown RB1 G449E lies within domain A of the Rb1 protein (UniProt.org). G449E has been identified in the scientific literature (PMID: 23532519, PMID: 15605413), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
S567L missense unknown RB1 S567L lies within domain A of the Rb1 protein (UniProt.org). S567L has been identified in the scientific literature (PMID: 10671068), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
dec exp none no effect RB1 dec exp indicates decreased expression of the Rb1 protein. However, the mechanism causing the decrease is unspecified.
inact mut unknown loss of function RB1 inact mut indicates that this variant results in a loss of function of the Rb1 protein. However, the specific amino acid change has not been identified.
R451H missense unknown RB1 R451H lies within domain A of the Rb1 protein (UniProt.org). R451H has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
E413* nonsense loss of function - predicted RB1 E413* results in a premature truncation of the Rb1 protein at amino acid 413 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), E413* is predicted to lead to a loss of Rb1 protein function.
positive unknown unknown RB1 positive indicates the presence of the RB1 gene, mRNA, and/or protein.
Q575* nonsense loss of function - predicted RB1 Q575* results in a premature truncation of the Rb1 protein within the A domain at amino acid 575 of 928. Due to the loss of all known functional domains (UniProt.org), Q575* is predicted to lead to a loss of Rb1 protein function.
R255Q missense unknown RB1 R255Q does not lie within any known functional domains of the Rb1 protein (UniProt.org). R255Q has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
R621P missense unknown RB1 R621P lies within the spacer region of the Rb1 protein (UniProt.org). R621P has not been characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
R255* nonsense loss of function - predicted RB1 R255* results in a premature truncation of the Rb1 protein at amino acid 255 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R255* is predicted to lead to a loss of Rb1 protein function.
R698W missense loss of function RB1 R698W lies within domain B of the Rb1 protein (UniProt.org). R698W confers a loss of function to the Rb1 protein as demonstrated by decreased apoptotic function, reduced protein stability, and some evidence for transformation ability (PMID: 20594292).
G449R missense unknown RB1 G449R lies within domain A of the Rb1 protein (UniProt.org). G449R has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
D718N missense unknown RB1 D718N lies within domain B of the Rb1 protein (UniProt.org). D718N has been identified in the scientific literature (PMID: 12402348), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
S758L missense unknown RB1 S758L lies within domain B of the Rb1 protein (UniProt.org). S758L has been identified in the scientific literature (PMID: 26324360), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
Q702K missense unknown RB1 Q702K lies within domain B of the Rb1 protein (UniProt.org). Q702K has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
loss unknown loss of function RB1 loss indicates loss of the RB1 gene, mRNA, and protein.
M695V missense unknown RB1 M695V lies within domain B of the Rb1 protein (UniProt.org). M695V has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
W681* nonsense loss of function - predicted RB1 W681* results in a premature truncation of the Rb1 protein at amino acid 681 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), W681* is predicted to lead to a loss of Rb1 protein function.
Q354* nonsense loss of function - predicted RB1 Q354* results in a premature truncation of the Rb1 protein at amino acid 354 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q354* is predicted to lead to a loss of Rb1 protein function.
R787* nonsense loss of function - predicted RB1 R787* results in a premature truncation of the Rb1 protein within its B domain at amino acid 787 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), R787* is predicted to lead to a loss of Rb1 protein function.
M379L missense unknown RB1 M379L lies within domain A of the Rb1 protein (UniProt.org). M379L has been identified in sequencing studies (PMID: 27294619), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
Q257* nonsense loss of function - predicted RB1 Q257* results in a premature truncation of the Rb1 protein at amino acid 257 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q257* is predicted to lead to a loss of Pten protein function.
R445* nonsense loss of function - predicted RB1 R445* results in a premature truncation of the Rb1 protein within the A domain at amino acid 445 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R445* is predicted to lead to a loss of Rb1 protein function.
R798Q missense unknown RB1 R798Q lies within domain C of the Rb1 protein (UniProt.org). R798Q has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
E280* nonsense loss of function - predicted RB1 E280* results in a premature truncation of the Rb1 protein at amino acid 280 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E280* is predicted to lead to a loss of Rb1 protein function.
W563L missense unknown RB1 W563L lies within domain A of the Rb1 protein (UniProt.org). W563L has been identified in sequencing studies (PMID: 10882758), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
Q121H missense unknown RB1 Q121H does not lie within any known functional domains of the Rb1 protein (UniProt.org). Q121H has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
R621S missense unknown RB1 R621S lies within the spacer region of the Rb1 protein (UniProt.org). R621S has been identified in the scientific literature (PMID: 24791139), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
S463fs frameshift loss of function - predicted RB1 S463fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 463 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), S463fs is predicted to lead to a loss of Rb1 protein function.
E545* nonsense loss of function - predicted RB1 E545* results in a premature truncation of the Rb1 protein at amino acid 545 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), E545* is predicted to lead to a loss of Rb1 protein function.
A496V missense unknown RB1 A496V lies within domain A of the Rb1 protein (UniProt.org). A496V has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
Q444L missense unknown RB1 Q444L lies within domain A of the Rb1 protein (UniProt.org). Q444L has not been characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
V654fs frameshift loss of function - predicted RB1 V654fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 654 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), V654fs is predicted to lead to a loss Rb1 protein function.
S634* nonsense loss of function - predicted RB1 S634* results in a premature truncation of the Rb1 protein within the spacer domain at amino acid 634 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), S634* is predicted to lead to a loss of Rb1 protein function.
R621C missense loss of function - predicted RB1 R621C lies within the spacer region of the Rb1 protein (UniProt.org). R621C has not been biochemically characterized, but is predicted to confer a loss of function to the Rb1 protein as demonstrated by the inability to induce apoptosis in cultured cells (PMID: 20594292).
Y728C missense unknown RB1 Y728C lies within domain B of the Rb1 protein (UniProt.org). Y728C has been identified in sequencing studies (PMID: 18772396), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
L797fs frameshift loss of function - predicted RB1 L797fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 797 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of domain C (UniProt.org), L797fs is predicted to lead to a loss of Rb1 protein function.
R552fs frameshift loss of function - predicted RB1 R552fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 552 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), R552fs is predicted to lead to a loss Rb1 protein function.
S816* nonsense loss of function - predicted RB1 S816* results in a premature truncation of the Rb1 protein at amino acid 816 of 928 (UniProt.org). Due to the loss of the C domain and nuclear localization signal (UniProt.org), S816* is predicted to lead to a loss of Rb1 protein function.
R787Q missense unknown RB1 R787Q lies within domain C of the Rb1 protein (UniProt.org). R787Q has been identified in the scientific literature (PMID: 15605413, PMID: 16269091), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
K94N missense unknown RB1 K94N does not lie within any known functional domains of the Rb1 protein (UniProt.org). K94N has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
R556* nonsense loss of function - predicted RB1 R556* results in a premature truncation of the Rb1 protein at amino acid 556 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), R556* is predicted to lead to a loss of Rb1 protein function.
R698I missense unknown RB1 R698I lies within domain B of the Rb1 protein (UniProt.org). R698I has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
F755I missense unknown RB1 F755I lies within domain B of the Rb1 protein (UniProt.org). F755I has been identified in the scientific literature (PMID: 22084214), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
K715E missense unknown RB1 K715E lies within domain B of the Rb1 protein (UniProt.org). K715E has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
K913R missense unknown RB1 K913R lies within domain C of the Rb1 protein (UniProt.org). K913R has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
V654L missense unknown RB1 V654L lies within domain B of the Rb1 protein (UniProt.org). V654L has been identified in sequencing studies (PMID: 21615945), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
E268* nonsense loss of function - predicted RB1 E268* results in a premature truncation of the Rb1 protein within the A domain at amino acid 268 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E268* is predicted to lead to a loss of Rb1 protein function.
K319Nfs*13 frameshift loss of function - predicted RB1 K319Nfs*13 indicates a shift in the reading frame starting at amino acid 319 and terminating 13 residues downstream causing a premature truncation of the 928 amino acid Rb1 protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), K319Nfs*13 is predicted to lead to a loss of Rb1 function.
C553* nonsense loss of function - predicted RB1 C553* results in a premature truncation of the Rb1 protein within the A domain at amino acid 553 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), C553* is predicted to lead to a loss of Rb1 protein function.
negative unknown loss of function RB1 negative indicates a lack of the RB1 gene, mRNA, and/or protein.
A488V missense unknown RB1 A488V lies within the domain A region of the Rb1 protein (UniProt.org). A488V has been identified in sequencing studies (PMID: 27203738), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
V654M missense unknown RB1 V654M lies within domain B of the Rb1 protein (UniProt.org). V654M has been identified in sequencing studies (PMID: 22622578), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
K240Sfs*22 frameshift loss of function - predicted RB1 K240Sfs*22 indicates a shift in the reading frame starting at amino acid 240 and terminating 22 residues downstream causing a premature truncation of the 928 amino acid Rb1 protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), K240Sfs*22 is predicted to lead to a loss of Rb1 function.
Q444H missense unknown RB1 Q444H lies within domain A of the Rb1 protein (UniProt.org). Q444H has been identified in sequencing studies (PMID: 24791139), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
E554* nonsense loss of function - predicted RB1 E554* results in a premature truncation of the Rb1 protein in the A domain at amino acid 554 of 928 (UniProt.org). Due to the loss of four major functional domains (UniProt.org), E554* is predicted to lead to a loss of Rb1 protein function.
S612C missense unknown RB1 S612C lies within the spacer region of the Rb1 protein (UniProt.org). S612C has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
R272* nonsense loss of function - predicted RB1 R272* results in a premature truncation of the Rb1 protein at amino acid 272 of 928 (UniProt.org). Due to the loss of all functional domains (UniProt.org), R272* is predicted to lead to a loss of Rb1 protein function.
L550I missense unknown RB1 L550I lies within domain A of the Rb1 protein (UniProt.org). L550I has been identified in sequencing studies (PMID: 27294619), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
C706F missense loss of function - predicted RB1 C706F lies within domain B of the Rb1 protein (UniProt.org). C706F is predicted to confer a loss of function to the Rb1 protein as demonstrated by loss of Rb1 phosphorylation (PMID: 2168563).
L662P missense unknown RB1 L662P lies within domain B of the Rb1 protein (UniProt.org). L662P has been identified in the scientific literature (PMID: 10671068), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
E748* nonsense loss of function - predicted RB1 E748* results in a premature truncation of the Rb1 protein at amino acid 748 of 928 (UniProt.org). Due to the loss of domain C (UniProt.org), E748* is predicted to lead to a loss of Rb1 protein function.
W195* nonsense loss of function - predicted RB1 W195* results in a premature truncation of the Rb1 protein at amino acid 195 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), W195* is predicted to lead to a loss of Rb1 protein function.
R876C missense unknown RB1 R876C lies within domain C of the Rb1 protein (UniProt.org). R876C has been identified in the scientific literature (PMID: 19372580), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
Q257R missense unknown RB1 Q257R does not lie within any known functional domains of the Rb1 protein (UniProt.org). Q257R has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
I782M missense unknown RB1 I782M lies within domain C of the Rb1 protein (UniProt.org). I782M has been identified in sequencing studies (PMID: 27294619), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
V375F missense unknown RB1 V375F lies within domain A of the Rb1 protein (UniProt.org). V375F has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
A11fs frameshift loss of function - predicted RB1 A11fs results in a change in the amino acid sequence of the Rb1 protein beginning at 11 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), A11fs is predicted to lead to a loss of Rb1 protein function.
P515L missense unknown RB1 P515L lies within domain A of the Rb1 protein (UniProt.org). P515L has not been characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
E48* nonsense loss of function - predicted RB1 E48* results in a premature truncation of the Rb1 protein at amino acid 48 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E48* is predicted to lead to a loss of Rb1 protein function.
Y728* nonsense loss of function - predicted RB1 Y728* results in a premature truncation of the Rb1 protein within the B domain at amino acid 728 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), Y728* is predicted to lead to a loss of Rb1 protein function.
wild-type none no effect Wild-type RB1 indicates that no mutations have been detected within the RB1 gene.
Y756C missense unknown RB1 Y756C lies within domain B of the Rb1 protein (UniProt.org). Y756C has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
I724N missense unknown RB1 I724N lies within domain B of the Rb1 protein (UniProt.org). I724N has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
R254K missense unknown RB1 R254K does not lie within any known functional domains of the Rb1 protein (UniProt.org). R254K has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
P374A missense unknown RB1 P374A lies within domain A of the Rb1 protein (UniProt.org). P374A has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
I348V missense unknown RB1 I348V does not lie within any known functional domains of the Rb1 protein (UniProt.org). I348V has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
mutant unknown unknown RB1 mutant indicates an unspecified mutation in the RB1 gene.
R320L missense unknown RB1 R320L does not lie within any known functional domains of the Rb1 protein (UniProt.org). R320L has been identified in sequencing studies (PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
R451C missense unknown RB1 R451C lies within domain A of the Rb1 protein (UniProt.org). R451C has been identified in sequencing studies (PMID: 26373574), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
K765* nonsense loss of function - predicted RB1 K765* results in a premature truncation of the Rb1 protein at amino acid 765 of 928 (UniProt.org). Due to the loss of Domain C (UniProt.org), K765* is predicted to lead to a loss of Rb1 protein function.
Q217* nonsense loss of function - predicted RB1 Q217* results in a premature truncation of the Rb1 protein at amino acid 217 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q217* is predicted to lead to a loss of Rb1 protein function.
Q639* nonsense loss of function - predicted RB1 Q639* results in a premature truncation of the Rb1 protein within the spacer domain at amino acid 639 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), Q639* is predicted to lead to a loss of Rb1 protein function.
T738_R775del deletion unknown RB1 T738_R775del results in the deletion of 38 amino acids in the domain B region of the Rb1 protein from amino acids 738 to 775 (UniProt.org). T738_R775del has been identified in the scientific literature (PMID: 29236940), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2018).
R455* nonsense loss of function - predicted RB1 R455* results in a premature truncation of the Rb1 protein within the A domain at amino acid 455 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R455* is predicted to lead to a loss of Rb1 protein function.
Q344fs frameshift loss of function - predicted RB1 Q344fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 344 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q344fs is predicted to lead to a loss of Rb1 protein function.
L688R missense unknown RB1 L688R lies within domain B of the Rb1 protein (UniProt.org). L688R has been identified in the scientific literature (PMID: 17960112), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
K740* nonsense loss of function - predicted RB1 K740* results in a premature truncation of the Rb1 protein at amino acid 740 of 928 (UniProt.org). K740* lies within the B domain of the Rb1 protein and is predicted to lead to a loss of function (PMID: 23895135).
R320* missense loss of function - predicted RB1 R320* results in a premature truncation of the Rb1 protein at amino acid 320 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R320* is predicted to lead to a loss of Rb1 protein function.
S751Y missense unknown RB1 S751Y lies within domain B of the Rb1 protein (UniProt.org). S751Y has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
R467* nonsense loss of function - predicted RB1 R467* results in a premature truncation of the Rb1 protein within the A domain at amino acid 467 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R467* is predicted to lead to a loss of Rb1 protein function.
L523fs frameshift loss of function - predicted RB1 L523fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 523 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), L523fs is predicted to lead to a loss Rb1 protein function.
I388S missense unknown RB1 I388S lies within domain A of the Rb1 protein (UniProt.org). I388S has not been characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
M148T missense unknown RB1 M148T does not lie within any known functional domains of the Rb1 protein (UniProt.org). M148T has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
P515T missense unknown RB1 P515T lies within domain A of the Rb1 protein (UniProt.org). P515T has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
R661W missense no effect - predicted RB1 R661W lies within the B domain of the Rb1 protein (UniProt.org). R661W is unable to bind E2F, however tumor suppression function is similar to wild-type Rb1 (PMID: 15688068) and therefore, R661W is predicted to have no effect on Rb1 protein function.
R579* nonsense loss of function - predicted RB1 R579* results in a premature truncation of the Rb1 protein within the A domain at amino acid 579 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), R579* is predicted to lead to a loss of Rb1 protein function.
A525G missense unknown RB1 A525G lies within domain A of the Rb1 protein (UniProt.org). A525G has been identified in the scientific literature (PMID: 23532519), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
R358* nonsense loss of function - predicted RB1 R358* results in a premature truncation of the Rb1 protein at amino acid 358 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R358* is predicted to lead to a loss of Rb1 protein function.
Q344* nonsense loss of function - predicted RB1 Q344* results in a premature truncation of the Rb1 protein at amino acid 344 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q344* is predicted to lead to a loss of Rb1 protein function.
I101fs frameshift loss of function - predicted RB1 I101fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 101 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), I101fs is predicted to lead to a loss Rb1 protein function.
R798W missense unknown RB1 R798W lies within domain C of the Rb1 protein (UniProt.org). R798W has been identified in the scientific literature (PMID: 9194486), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
R552* nonsense loss of function - predicted RB1 R552* results in a premature truncation of the Rb1 protein within the A domain at amino acid 552 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R552* is predicted to lead to a loss of Rb1 protein function.
E843* nonsense unknown RB1 E843* results in a premature truncation of the Rb1 protein at amino acid 843 of 928 (UniProt.org). E843* has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Apr 2018).
Molecular Profile Protein Effect Treatment Approaches
RB1 A10fs loss of function - predicted HDAC Inhibitor
RB1 R272I unknown
RB1 Y659F unknown
RB1 E137* loss of function - predicted HDAC Inhibitor
RB1 C712R loss of function
RB1 W99* loss of function - predicted HDAC Inhibitor
RB1 H483Y unknown
RB1 H483R unknown
RB1 Q62* loss of function - predicted HDAC Inhibitor
RB1 L607I loss of function - predicted HDAC Inhibitor
RB1 L199* loss of function - predicted HDAC Inhibitor
RB1 Q504* loss of function - predicted HDAC Inhibitor
RB1 E440K unknown
RB1 R251* loss of function - predicted HDAC Inhibitor
RB1 I752S unknown
RB1 Q266* loss of function - predicted HDAC Inhibitor
RB1 L657P unknown
RB1 S127I unknown
RB1 G449E unknown
RB1 S567L unknown
RB1 dec exp no effect
CDKN2A pos RB1 inact mut
RB1 inact mut loss of function HDAC Inhibitor
RB1 R451H unknown
RB1 E413* loss of function - predicted HDAC Inhibitor
RB1 positive unknown
RB1 Q575* loss of function - predicted HDAC Inhibitor
RB1 R255Q unknown
RB1 R621P unknown
RB1 R255* loss of function - predicted HDAC Inhibitor
RB1 R698W loss of function HDAC Inhibitor
RB1 G449R unknown
RB1 D718N unknown
RB1 S758L unknown
RB1 Q702K unknown
BRAF mut RB1 loss
PTEN loss RB1 loss
RB1 loss loss of function HDAC Inhibitor
NOTCH1 wild-type RB1 loss
RB1 M695V unknown
RB1 W681* loss of function - predicted HDAC Inhibitor
RB1 Q354* loss of function - predicted HDAC Inhibitor
RB1 R787* loss of function - predicted HDAC Inhibitor
RB1 M379L unknown
RB1 Q257* loss of function - predicted HDAC Inhibitor
RB1 R445* loss of function - predicted HDAC Inhibitor
RB1 R798Q unknown
RB1 E280* loss of function - predicted HDAC Inhibitor
RB1 W563L unknown
RB1 Q121H unknown
RB1 R621S unknown
RB1 S463fs loss of function - predicted HDAC Inhibitor
RB1 E545* loss of function - predicted HDAC Inhibitor
RB1 A496V unknown
RB1 Q444L unknown
RB1 V654fs loss of function - predicted
RB1 E268* RB1 I101fs RB1 T738_R775del RB1 V654fs
RB1 S634* loss of function - predicted HDAC Inhibitor
RB1 R621C loss of function - predicted HDAC Inhibitor
RB1 Y728C unknown
RB1 L797fs loss of function - predicted HDAC Inhibitor
RB1 R552fs loss of function - predicted HDAC Inhibitor
RB1 S816* loss of function - predicted HDAC Inhibitor
RB1 R787Q unknown
RB1 K94N unknown
RB1 R556* loss of function - predicted HDAC Inhibitor
RB1 R698I unknown
RB1 F755I unknown
RB1 K715E unknown
RB1 K913R unknown
RB1 V654L unknown
RB1 E268* loss of function - predicted
RB1 K319Nfs*13 loss of function - predicted HDAC Inhibitor
RB1 C553* loss of function - predicted HDAC Inhibitor
RB1 negative loss of function
RB1 A488V unknown
RB1 V654M unknown
RB1 K240Sfs*22 TP53 R248W
RB1 K240Sfs*22 loss of function - predicted
RB1 Q444H unknown
RB1 E554* loss of function - predicted HDAC Inhibitor
RB1 S612C unknown
RB1 R272* loss of function - predicted HDAC Inhibitor
RB1 L550I unknown
RB1 C706F loss of function - predicted HDAC Inhibitor
ALK rearrange RB1 C706F TP53 loss
RB1 L662P unknown
RB1 E748* loss of function - predicted HDAC Inhibitor
RB1 W195* loss of function - predicted HDAC Inhibitor
RB1 R876C unknown
RB1 Q257R unknown
RB1 I782M unknown
RB1 V375F unknown
RB1 A11fs loss of function - predicted HDAC Inhibitor
RB1 P515L unknown
RB1 E48* loss of function - predicted HDAC Inhibitor
RB1 Y728* loss of function - predicted HDAC Inhibitor
RB1 wild-type no effect
TP53 wild-type RB1 wild-type
TP53 mutant RB1 wild-type
NOTCH1 mut RB1 wild-type
NOTCH1 wild-type RB1 wild-type
RB1 Y756C unknown
RB1 I724N unknown
RB1 R254K unknown
RB1 P374A unknown
RB1 I348V unknown
RB1 mutant unknown
RB1 mut TP53 mut
PTEN mut RB1 mut SMAD4 mut TP53 mut
RB1 R320L unknown
RB1 R451C unknown
RB1 K765* loss of function - predicted HDAC Inhibitor
RB1 Q217* loss of function - predicted HDAC Inhibitor
RB1 Q639* loss of function - predicted HDAC Inhibitor
RB1 T738_R775del unknown
RB1 R455* loss of function - predicted HDAC Inhibitor
RB1 Q344fs loss of function - predicted HDAC Inhibitor
RB1 L688R unknown
RB1 K740* loss of function - predicted HDAC Inhibitor
RB1 R320* loss of function - predicted HDAC Inhibitor
RB1 S751Y unknown
RB1 R467* loss of function - predicted HDAC Inhibitor
RB1 L523fs loss of function - predicted HDAC Inhibitor
RB1 I388S unknown
RB1 M148T unknown
RB1 P515T unknown
RB1 R661W no effect - predicted
RB1 R579* loss of function - predicted HDAC Inhibitor
RB1 A525G unknown
RB1 R358* loss of function - predicted HDAC Inhibitor
RB1 Q344* loss of function - predicted HDAC Inhibitor
RB1 I101fs loss of function - predicted
RB1 R798W unknown
RB1 R552* loss of function - predicted HDAC Inhibitor
RB1 E843* unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RB1 H483Y Her2-receptor negative breast cancer predicted - resistant Letrozole + Ribociclib Clinical Study Actionable In a clinical case study, RB1 H48Y was identified in the circulating tumor DNA of a patient with estrogen receptor positive, progesterone receptor positive, and Erbb2 (Her2)-negative, invasive ductal carcinoma at the time of disease progression after 13 months of Kisqali (ribociclib) and Femara (letrozole) combination treatment (PMID: 29236940). 29236940
CDKN2A pos RB1 inact mut glioblastoma multiforme resistant Palbociclib Preclinical - Patient cell culture Actionable In a preclinical study, patient-derived glioblastoma cells harboring RB1 truncation mutation and expressing Cdkn2a were resistant to Ibrance (palbociclib) in culture (PMID: 22711607). 22711607
RB1 inact mut retinoblastoma sensitive Nutlin-3a Preclinical Actionable In a preclinical study, Nutlin-3a induced p53 pathway signaling in MDMX mouse models with retinoblastoma and 69% (70/102) of the eyes harvested from the mouse models demonstrated complete response or stable disease after 18 weeks of therapy (PMID: 21515735). 21515735
RB1 inact mut glioblastoma multiforme resistant Palbociclib Preclinical - Cell line xenograft Actionable In a preclinical study, Ibrance (palbociclib) failed to inhibit growth of RB1-deficient glioblastoma cell lines in culture and in intracranial cell line xenograft models (PMID: 20354191). 20354191
RB1 inact mut retinoblastoma sensitive Fostamatinib Preclinical Actionable In a preclinical study, retinoblastoma cell lines demonstrated sensitivity to Fostamatinib resulting in cell death (PMID: 22237022). 22237022
RB1 inact mut retinoblastoma sensitive BAY 61-3606 Preclinical Actionable In a preclinical study, a retinoblastoma cell line was sensitive to BAY 61-3606 in cell culture and in xenograft models, demonstrating increased apoptosis (PMID: 22237022). 22237022
RB1 positive glioblastoma multiforme predicted - sensitive Palbociclib Preclinical - Cell line xenograft Actionable In a preclinical study, Ibrance (palbociclib) inhibited proliferation of RB1-proficient glioblastoma cell lines in culture and inhibited tumor growth in intracranial cell line xenograft models (PMID: 20354191). 20354191
RB1 positive medulloblastoma sensitive Palbociclib Preclinical - Pdx Actionable In a preclinical study, Ibrance (palbociclib) inhibited Rb1 phosphorylation in tumor tissues and improved survival in patient-derived intracranial xenograft models of medulloblastoma (PMID: 27012813). 27012813
RB1 positive Advanced Solid Tumor predicted - sensitive Ribociclib Phase I Actionable In a Phase I clinical trial, Kisqali (ribociclib) demonstrated safety and preliminary efficacy in patients with RB1-positive solid tumors and lymphomas, resulting in partial responses in 2.3% (3/132) of patients and stable disease in 32.6% (41/132) of patients, including 8 patients demonstrating stable disease for greater than 6 months (PMID: 27542767). detail... 24795392 27542767
BRAF mut RB1 loss melanoma decreased response Palbociclib + Trametinib Preclinical - Cell culture Actionable In a preclinical study, a melanoma cell line with a BRAF mutation and loss of RB1 demonstrated minimal sensitivity when treated with the combination of Ibrance (palbociclib) and Mekinist (trametinib) in culture (PMID: 27488531). 27488531
BRAF mut RB1 loss melanoma decreased response Palbociclib Preclinical - Cell culture Actionable In a preclinical study, a melanoma cell line harboring a BRAF mutation and loss of RB1 demonstrated a decreased response to Ibrance (palbociclib) treatment in culture when compared to treatment of melanoma cell lines wild-type for BRAF (PMID: 27488531). 27488531
BRAF mut RB1 loss melanoma decreased response Trametinib Preclinical - Cell culture Actionable In a preclinical study, a melanoma cell line harboring a BRAF mutation and RB1 loss demonstrated reduced sensitivity when treated with Mekinist (trametinib) in culture (PMID: 27488531). 27488531
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 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 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
RB1 loss retinoblastoma sensitive Vorinostat Preclinical - Cell culture Actionable In a preclinical study, Zolinza (vorinostat) inhibited growth of retinoblastoma cell lines in culture (PMID: 18483379), which have been demonstrated to be deficient in RB1 (PMID: 23498719). 23498719 18483379
RB1 loss neuroendocrine tumor sensitive Sirolimus Preclinical Actionable In a preclinical study, Sirolimus (rapamycin) slowed pituitary tumors and decreased the occurrence of thyroid tumors in Rb1+/- mice (PMID: 23454836). 23454836
RB1 loss retinoblastoma sensitive Trichostatin A Preclinical - Cell culture Actionable In a preclinical study, Trichostatin A (TSA) inhibited growth of retinoblastoma cell lines in culture (PMID: 18483379), which have been demonstrated to be deficient in RB1 (PMID: 23498719). 23498719 18483379
RB1 loss lung small cell carcinoma resistant Trilaciclib Preclinical - Cell line xenograft Actionable In a preclinical study, RB1-deficient small cell lung cancer cell lines were resistant to Trilaciclib (G1T28) in culture and in xenograft models (PMID: 26826116). 26826116
RB1 loss estrogen-receptor positive breast cancer resistant Palbociclib Preclinical - Cell culture Actionable In a preclinical study, RB1 loss was associated with acquired resistance to Ibrance (palbociclib) in an estrogen-receptor positive breast cancer cell line in culture (PMID: 27020857). 27020857
RB1 loss Advanced Solid Tumor no benefit Palbociclib Preclinical Actionable In preclinical studies, the CDK4/6 inhibitor, Ibrance (palbociclib), was not effective in a variety of solid tumors with Rb1-deficiency (PMID: 26649278). 26649278
RB1 loss retinoblastoma sensitive Entinostat Preclinical - Cell line xenograft Actionable In a preclinical study, Entinostat (MS-275) inhibited growth of retinoblastoma cell lines in culture and inhibited tumor growth in a retinoblastoma cell line xenograft model (PMID: 18483379), which have been demonstrated to be deficient in RB1 (PMID: 23498719). 23498719 18483379
RB1 loss lung small cell carcinoma sensitive Trilaciclib + Topotecan Preclinical - Cell line xenograft Actionable In a preclinical study, the combination of Trilaciclib (G1T28) and Hycamtin (topotecan) inhibited tumor growth in RB1-deficient small cell lung cancer cell line xenograft models, with greater efficacy than Hycamtin (topotecan) alone (PMID: 26826116). 26826116
RB1 loss retinoblastoma sensitive Sirolimus Preclinical Actionable In a preclinical study, Sirolimus (rapamycin) decreased tumor occurrence, tumor hypoxia and tumor vascularization in a retinoblastoma mouse model with functionally inactivated Rb protein (PMID: 21468343, PMID: 1689463). 21468343 1689463
NOTCH1 wild-type RB1 loss T-cell adult acute lymphocytic leukemia resistant Ribociclib Preclinical - Cell culture Actionable In a preclinical study, a T-cell acute lymphoblastic leukemia cell line harboring wild-type NOTCH1 and loss of RB1 demonstrated resistance to Kisqali (ribociclib) in culture, resulting in limited inhibition of cell growth (PMID: 28151717). 28151717
RB1 E268* RB1 I101fs RB1 T738_R775del RB1 V654fs Her2-receptor negative breast cancer predicted - resistant Fulvestrant + Palbociclib Clinical Study Actionable In a clinical case study, RB1 mutations including E268*, I101fs, T738_R775del, and V654fs were identified in the circulating tumor DNA of a patient with estrogen receptor positive, progesterone receptor positive, and Erbb2 (Her2)-negative, invasive ductal carcinoma at the time of disease progression after 8 months of Ibrance (palbociclib) and Faslodex (fulvestrant) combination treatment (PMID: 29236940). 29236940
RB1 K240Sfs*22 TP53 R248W Her2-receptor negative breast cancer predicted - resistant Fulvestrant + Palbociclib Clinical Study Actionable In a clinical case study, RB1 K240Sfs*22 and TP53 R248W were identified in the circulating tumor DNA of a patient with estrogen receptor positive, progesterone receptor positive, and Erbb2 (Her2)-negative, invasive ductal carcinoma at the time of disease progression after 5 months of Ibrance (palbociclib) and Faslodex (fulvestrant) combination treatment (PMID: 29236940). 29236940
ALK rearrange RB1 C706F TP53 loss lung small cell carcinoma predicted - resistant Lorlatinib Clinical Study Actionable In a clinical case study, RB1 C706F and loss of exons 1-11 in TP53 were identified in the pericardium infiltrating small cell lung cancer that developed while on Lorlatinib (PF-06463922) treatment in a patient with ALK-rearranged non-small cell lung carcinoma (PMID: 28285684). 28285684
TP53 wild-type RB1 wild-type lung carcinoma sensitive R547 Preclinical - Cell line xenograft Actionable In a preclinical study, R547 inhibited proliferation of lung carcinoma cell lines harboring wild-type Tp53 and Rb1 in culture and reduced tumor growth in xenograft models (PMID: 17121911). 17121911
TP53 wild-type RB1 wild-type colon carcinoma sensitive R547 Preclinical - Cell line xenograft Actionable In a preclinical study, R547 inhibited proliferation of colon carcinoma cell lines harboring wild-type Tp53 and Rb1 in culture and reduced tumor growth in xenograft models (PMID: 17121911). 17121911
TP53 wild-type RB1 wild-type mantle cell lymphoma sensitive R547 Preclinical Actionable In a preclinical study, R547 inhibited proliferation of mantle cell lymphoma cell lines harboring wild-type Tp53 and Rb1 (PMID: 17121911). 17121911
TP53 wild-type RB1 wild-type melanoma sensitive R547 Preclinical - Cell line xenograft Actionable In a preclinical study, R547 inhibited proliferation of melanoma cell lines harboring wild-type Tp53 and Rb1 in culture and reduced tumor growth in xenograft models (PMID: 17121911). 17121911
TP53 wild-type RB1 wild-type breast carcinoma sensitive R547 Preclinical Actionable In a preclinical study, R547 inhibited proliferation of breast carcinoma cell lines harboring wild-type Tp53 and Rb1 (PMID: 17121911). 17121911
TP53 mutant RB1 wild-type mantle cell lymphoma sensitive R547 Preclinical Actionable In a preclinical study, R547 inhibited proliferation of mantle cell lymphoma cell lines harboring mutant Tp53 and wild-type Rb1 (PMID: 17121911). 17121911
TP53 mutant RB1 wild-type osteosarcoma sensitive R547 Preclinical Actionable In a preclinical study, R547 inhibited proliferation of osteosarcoma cell lines harboring mutant Tp53 and wild-type Rb1 (PMID: 17121911). 17121911
TP53 mutant RB1 wild-type colon carcinoma sensitive R547 Preclinical Actionable In a preclinical study, R547 inhibited proliferation of colon carcinoma cell lines harboring mutant Tp53 and wild-type Rb1 (PMID: 17121911). 17121911
TP53 mutant RB1 wild-type breast carcinoma sensitive R547 Preclinical - Cell line xenograft Actionable In a preclinical study, R547 inhibited proliferation of breast carcinoma cell lines harboring mutant Tp53 and wild-type Rb1 in culture and reduced tumor growth in xenograft models (PMID: 17121911). 17121911
NOTCH1 mut RB1 wild-type T-cell adult acute lymphocytic leukemia sensitive Ribociclib + Bortezomib Preclinical - Cell culture Actionable In a preclinical study, the combination of Kisqali (ribociclib) and Velcade (bortezomib) resulted in an additive effect in a T-cell acute lymphoblastic leukemia cell line harboring wild-type RB1 and a NOTCH1 mutation in culture (PMID: 28151717). 28151717
NOTCH1 mut RB1 wild-type T-cell adult acute lymphocytic leukemia decreased response Ribociclib + Methotrexate Preclinical - Cell culture Actionable In a preclinical study, the addition of Kisqali (ribociclib) to Methotrexate resulted in an antagonistic effect in a T-cell acute lymphoblastic leukemia cell line harboring wild-type RB1 and a NOTCH1 mutation in culture (PMID: 28151717). 28151717
NOTCH1 mut RB1 wild-type T-cell adult acute lymphocytic leukemia decreased response Ribociclib + Mercaptopurine Preclinical - Cell culture Actionable In a preclinical study, the addition of Kisqali (ribociclib) to Purixan (mercaptopurine) resulted in an antagonistic effect in a T-cell acute lymphoblastic leukemia cell line harboring wild-type RB1 and a NOTCH1 mutation in culture (PMID: 28151717). 28151717
NOTCH1 mut RB1 wild-type T-cell adult acute lymphocytic leukemia sensitive Ribociclib + JQ1 Preclinical - Cell culture Actionable In a preclinical study, the combination of Kisqali (ribociclib) and JQ1 resulted in an additive effect in a T-cell acute lymphoblastic leukemia cell line harboring wild-type RB1 and a NOTCH1 mutation in culture (PMID: 28151717). 28151717
NOTCH1 mut RB1 wild-type T-cell adult acute lymphocytic leukemia sensitive Ribociclib Preclinical - Cell culture Actionable In a preclinical study, a T-cell acute lymphoblastic leukemia cell line co-harboring wild-type RB1 and a NOTCH1 mutation demonstrated sensitivity to treatment with Kisqali (ribociclib) in culture, resulting in inhibition of cell growth (PMID: 28151717). 28151717
NOTCH1 mut RB1 wild-type T-cell adult acute lymphocytic leukemia sensitive Ribociclib + Dexamethasone Preclinical - Cell line xenograft Actionable In a preclinical study, the combination of Kisqali (ribociclib) and Adexone (dexamethasone) treatment in a T-cell acute lymphoblastic leukemia cell line harboring wild-type RB1 and a NOTCH1 mutation resulted in decreased cell viability and reduced phosphorylation of Rb1 in culture, and a greater survival benefit in xenograft models when compared to Kisqali (ribociclib) alone (PMID: 28151717). 28151717
NOTCH1 mut RB1 wild-type T-cell adult acute lymphocytic leukemia sensitive Ribociclib + Prednisolone Preclinical - Cell culture Actionable In a preclinical study, the combination of Kisqali (ribociclib) and Omnipred (prednisolone) resulted in a synergistic effect in a T-cell acute lymphoblastic leukemia cell line harboring wild-type RB1 and a NOTCH1 mutation in culture (PMID: 28151717). 28151717
NOTCH1 mut RB1 wild-type T-cell adult acute lymphocytic leukemia decreased response Ribociclib + Asparaginase Preclinical - Cell culture Actionable In a preclinical study, the addition of Kisqali (ribociclib) to Elspar (asparaginase) resulted in an antagonistic effect in a T-cell acute lymphoblastic leukemia cell line harboring wild-type RB1 and a NOTCH1 mutation in culture (PMID: 28151717). 28151717
NOTCH1 mut RB1 wild-type T-cell adult acute lymphocytic leukemia sensitive Ribociclib + Everolimus Preclinical - Cell culture Actionable In a preclinical study, the combination of Kisqali (ribociclib) and Afinitor (everolimus) treatment in a T-cell acute lymphoblastic leukemia cell line harboring wild-type RB1 and a NOTCH1 mutation resulted in decreased Rb1 phosphorylation and a greater inhibition of cell growth compared to either agent alone in culture (PMID: 28151717). 28151717
NOTCH1 wild-type RB1 wild-type T-cell adult acute lymphocytic leukemia conflicting Ribociclib + Dexamethasone Preclinical - Cell line xenograft Actionable In a preclinical study, the combination of Kisqali (ribociclib) and Adexone (dexamethasone) in a T-cell acute lymphoblastic leukemia cell line harboring wild-type RB1 and NOTCH1 resulted in decreased cell viability and reduced phosphorylation of Rb1 in culture, however, survival did not differ between xenograft models treated with the combination or Kisqali (ribociclib) alone (PMID: 28151717). 28151717
NOTCH1 wild-type RB1 wild-type T-cell adult acute lymphocytic leukemia sensitive Ribociclib + JQ1 Preclinical - Cell culture Actionable In a preclinical study, the combination of Kisqali (ribociclib) and JQ1 resulted in an additive effect in a T-cell acute lymphoblastic leukemia cell line harboring wild-type RB1 and wild-type NOTCH1 in culture (PMID: 28151717). 28151717
NOTCH1 wild-type RB1 wild-type T-cell adult acute lymphocytic leukemia decreased response Ribociclib + Methotrexate Preclinical - Cell culture Actionable In a preclinical study, the addition of Kisqali (ribociclib) to Methotrexate resulted in an antagonistic effect in a T-cell acute lymphoblastic leukemia cell line harboring wild-type RB1 and wild-type NOTCH1 in culture (PMID: 28151717). 28151717
NOTCH1 wild-type RB1 wild-type T-cell adult acute lymphocytic leukemia decreased response Ribociclib + Asparaginase Preclinical - Cell culture Actionable In a preclinical study, the addition of Kisqali (ribociclib) to Elspar (asparaginase) resulted in an antagonistic effect in a T-cell acute lymphoblastic leukemia cell line harboring wild-type RB1 and wild-type NOTCH1 in culture (PMID: 28151717). 28151717
NOTCH1 wild-type RB1 wild-type T-cell adult acute lymphocytic leukemia sensitive Ribociclib + Bortezomib Preclinical - Cell culture Actionable In a preclinical study, the combination of Kisqali (ribociclib) and Velcade (bortezomib) resulted in an additive effect in a T-cell acute lymphoblastic leukemia cell line harboring wild-type RB1 and wild-type NOTCH1 in culture (PMID: 28151717). 28151717
NOTCH1 wild-type RB1 wild-type T-cell adult acute lymphocytic leukemia sensitive Ribociclib + Everolimus Preclinical - Cell line xenograft Actionable In a preclinical study, the combination of Kisqali (ribociclib) and Afinitor (everolimus) treatment in a T-cell acute lymphoblastic leukemia cell line harboring wild-type RB1 and wild-type NOTCH1 resulted in decreased Rb1 phosphorylation and a greater inhibition of cell growth compared to either agent alone in culture, and prolonged survival in cell-line xenograft models (PMID: 28151717). 28151717
NOTCH1 wild-type RB1 wild-type T-cell adult acute lymphocytic leukemia sensitive Ribociclib + Prednisolone Preclinical - Cell culture Actionable In a preclinical study, the combination of Kisqali (ribociclib) and Omnipred (prednisolone) resulted in a synergistic effect in a T-cell acute lymphoblastic leukemia cell line harboring wild-type RB1 and wild-type NOTCH1 in culture (PMID: 28151717). 28151717
NOTCH1 wild-type RB1 wild-type T-cell adult acute lymphocytic leukemia sensitive Ribociclib Preclinical - Cell culture Actionable In a preclinical study, a T-cell acute lymphoblastic leukemia cell line harboring wild-type RB1 and wild-type NOTCH1 demonstrated sensitivity to treatment with Kisqali (ribociclib) in culture, resulting in inhibition of cell growth (PMID: 28151717). 28151717
NOTCH1 wild-type RB1 wild-type T-cell adult acute lymphocytic leukemia decreased response Ribociclib + Mercaptopurine Preclinical - Cell culture Actionable In a preclinical study, the addition of Kisqali (ribociclib) to Purixan (mercaptopurine) resulted in an antagonistic effect in a T-cell acute lymphoblastic leukemia cell line harboring wild-type RB1 and wild-type NOTCH1 in culture (PMID: 28151717). 28151717
RB1 mutant osteosarcoma sensitive VCN-01 Preclinical - Cell line xenograft Actionable In a preclinical study, VCN-01 decreased viability of a human RB1-mutant primary osteosarcoma cell line in culture, and inhibited tumor growth and decreased lung metastases in xenograft models (PMID: 26603261). 26603261
RB1 mut TP53 mut breast carcinoma sensitive R547 Preclinical Actionable In a preclinical study, R547 inhibited proliferation of breast carcinoma cell lines harboring TP53 and RB1 mutations in culture (PMID: 17121911). 17121911
RB1 mut TP53 mut cervical cancer sensitive R547 Preclinical Actionable In a preclinical study, R547 inhibited proliferation of cervical carcinoma cell lines harboring Tp53 and Rb1 mutations (PMID: 17121911). 17121911
RB1 mut TP53 mut prostate carcinoma sensitive R547 Preclinical - Cell line xenograft Actionable In a preclinical study, R547 inhibited proliferation of prostate carcinoma cell lines harboring Tp53 and Rb1 mutations in culture and reduced tumor growth in xenograft models (PMID: 17121911). 17121911
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