RB1 Mutation

CI-VAR-00002692Explore in graph →CIViC 799

Curated evidence

Evidence by cancer (5 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–5 of 5 evidence items across 4 cancer contexts on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Diffuse Large B-Cell Lymphoma1
RB1 Mutation	(oncogenic)	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
Lung Small Cell Carcinoma1
RB1 Mutation	Chemotherapy	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 ·

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.

Malignant Breast Neoplasm2
PIK3CA Mutation OR RB1 Mutation OR ESR1 Mutation	Fulvestrant + PalbociclibCombination	Predictive	B	Supports Resistance	3	accepted	EID12045 In this phase III trial (PALOMA-3), patients with ER+, HER2- advanced breast cancer were treated with CDK4/6 inhibitors. Patients were randomized to receive palbociclib plus fulvestrant (P+F) or place… (full text at CIViC) PMID 30206110 · O'Leary et al., 2018 · Open in CIViC	civic
RB1 Mutation	Palbociclib + RibociclibSubstitutes	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

Malignant Neoplasm1
RB1 Mutation	Aurora A Kinase Inhibitor LY3295668 Erbumine	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