Gene

RB1

RB transcriptional corepressor 1

Explore in graph →CI-GENE-00023040HGNC:9884 ENSG00000139687 NCBI 5925 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (18)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1–18 of 18 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
ESR1 Mutation + PIK3CA Mutation + RB1 MutationPIK3CA RB1 ESR11
Fulvestrant + PalbociclibCombination	Malignant Breast Neoplasm

Cohorts

Alteration frequency by cohort (200)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved200 cohort rows (showing 50, sorted by frequency) · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Sarcoma (TCGA, Firehose Legacy) sarc_tcga	unmapped	Ssm	24	247	9.7%	4

Literature

Linked publications (9)

25 per page, newest first.

pubmedPublishedShowing 1–9 of 9 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

CDK 4/6 inhibitors sensitize PIK3CA mutant breast cancer to PI3K inhibitors.
· Cancer Cell · 2014 · PMID 25002028 · validated civic_curation pubmed
Palbociclib in Patients With Non-Small-Cell Lung Cancer With CDKN2A Alterations: Results From the Targeted Agent and Profiling Utilization Registry Study.
· JCO Precis Oncol · 2020 · PMID 35050752 · validated civic_curation pubmed
The Genetic Landscape and Clonal Evolution of Breast Cancer Resistance to Palbociclib plus Fulvestrant in the PALOMA-3 Trial.
· Cancer Discov · 2018 · PMID 30206110 · validated civic_curation pubmed
Altered p16(INK4) and RB1 Expressions Are Associated with Poor Prognosis in Patients with Nonsmall Cell Lung Cancer.
· J Oncol · 2012 · PMID 22619677 · validated

RB1 EXPRESSION1
(prognostic)	Lung Non-Small Cell CarcinomaCURATED_BROADER	Prognostic	B	Supports Poor Outcome	2	accepted	EID1313 Positive RB1 expression (2+ by IHC) was associated with adverse outcomes in a cohort of 73 cases with stage I and II NSCLC (P<0.001) in this retrospective study. This finding was independent from othe… (full text at CIViC) PMID 22619677 · Zhao et al., 2012 · Open in CIViC	civic

RB1 EXPRESSION1

(prognostic)

Lung Non-Small Cell CarcinomaCURATED_BROADER

Prognostic

Supports Poor Outcome

accepted

EID1313

Positive RB1 expression (2+ by IHC) was associated with adverse outcomes in a cohort of 73 cases with stage I and II NSCLC (P<0.001) in this retrospective study. This finding was independent from othe… (full text at CIViC)

PMID 22619677 · Zhao et al., 2012 · Open in CIViC

RB1 Loss-of-function7
Checkpoint Kinase Inhibitor AZD7762	Triple-Negative Breast CarcinomaALIAS	Predictive	D	Supports Sensitivity Response	3	submitted	EID12330 A drug screen of triple-negative breast cancer (TNBC) cell lines found several therapies to be synthetically lethal with RB1 loss of function. Cell lines with endogenous expression of RB1 (BT20, MB453… (full text at CIViC) PMID 29386107 · Witkiewicz et al., 2018 · Open in CIViC	civic
Gemcitabine	Triple-Negative Breast CarcinomaALIAS	Predictive	D	Supports Sensitivity Response	3	submitted	EID12329 A drug screen of triple-negative breast cancer (TNBC) cell lines found several therapies to be synthetically lethal with RB1 loss of function. Cell lines with endogenous expression of RB1 (BT20, MB453… (full text at CIViC) PMID 29386107 · Witkiewicz et al., 2018 · Open in CIViC	civic
Niraparib + Olaparib + TalazoparibSubstitutes	Osteosarcoma	Predictive	D	Supports Sensitivity Response	4	submitted	EID12032 The study investigated the sensitivity of RB1-mutant osteosarcoma cell lines to PARPi. It found that cell viability, measured by AUC values after 5 days, was significantly lower in RB1-defective cell … (full text at CIViC) PMID 34862364 · Zoumpoulidou et al., 2021 · Open in CIViC	civic
Palbociclib	Malignant Breast Neoplasm	Predictive	D	Supports Resistance	3	accepted	EID1535 In 3 ER positive and 2 ER negative breast cancer cell lines with intact Rb, significant growth inhibition, as measured by BrdU incorporation, was seen with incubation in CDK4/6 inhibitor palbociclib (… (full text at CIViC) PMID 20473330 · Dean et al., 2010 · Open in CIViC	civic
〃	GlioblastomaCURATED_BROADER	Predictive	D	Supports Resistance	3	accepted	EID1595 A panel of 21 glioblastoma cell lines harboring various mutations was treated with palbociclib. 16 of the cell lines with intact Rb showed decreased proliferation (bromodeoxyuridine incorporation, Brd… (full text at CIViC) PMID 20354191 · Michaud et al., 2010 · Open in CIViC	civic
Fulvestrant + PemrametostatCombination	Malignant Breast Neoplasm	Predictive	D	Supports Sensitivity Response	3	submitted	EID12579 In ER⁺/RB1-deficient breast cancer models resistant to CDK4/6 inhibitors, PRMT5 inhibition with pemrametostat (IC₅₀ = 49.8-268.5 nM) or JNJ-64619178 reduced proliferation and induced G₁ arrest in MCF-… (full text at CIViC) PMID 38480701 · Lin et al., 2024 · Open in CIViC	civic
Volasertib	Triple-Negative Breast CarcinomaALIAS	Predictive	D	Supports Sensitivity Response	3	submitted	EID12331 A drug screen of triple-negative breast cancer (TNBC) cell lines found several therapies to be synthetically lethal with RB1 loss of function. Cell lines with endogenous expression of RB1 (BT20, MB453… (full text at CIViC) PMID 29386107 · Witkiewicz et al., 2018 · Open in CIViC	civic

RB1 Mutation4
(oncogenic)	Diffuse Large B-Cell LymphomaCURATED_BROADER	Oncogenic	E	Supports Oncogenicity	3	submitted	EID11980 This study reportedly sequenced 1001 DLBCL tumors using whole exome sequencing. They reported 150 recurrently mutated genes. Some concerns about the validity of the results have been expressed in subs… (full text at CIViC) PMID 28985567 · Reddy et al., 2017 · Open in CIViC	civic
Aurora A Kinase Inhibitor LY3295668 Erbumine	Malignant NeoplasmALIAS	Predictive	D	Supports Sensitivity Response	4	submitted	EID11899 In this study, the sensitivity of RB1 mutated cancer cells to AURKAi LY3295668 has been investigated. Enhanced cytotoxicity was reported in RB1 depleted lung and breast cancer cells in response to th… (full text at CIViC) PMID 30373917 · Gong et al., 2019 · Open in CIViC	civic
Chemotherapy	Lung Small Cell Carcinoma	Predictive	B	Supports Sensitivity Response	2	accepted	EID1866 Study evaluated a total of 50 small cell lung cancer patients with extensive stage disease. Multivariate analysis identified RB1 as a factor in predicting response to first-line chemotherapy (odds rat… (full text at CIViC) PMID 26802149 · Dowlati et al., 2016 · Open in CIViC	civic
Palbociclib + RibociclibSubstitutes	Malignant Breast Neoplasm	Predictive	C	Supports Resistance	4	submitted	EID6097 Three patients with hormone receptor positive metastastic breast cancer, treated with letrozol/ribociclib or fulvestrant/palbociclib, underwent RB1 gene sequencing before, during and after acquiring r… (full text at CIViC) PMID 29236940 · Condorelli et al., 2018 · Open in CIViC	civic