RB1 Loss-of-function

CI-VAR-00002527Explore in graph →CIViC 606

Curated evidence

Evidence by cancer (7 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 1–7 of 7 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
Glioblastoma1
RB1 Loss-of-function	Palbociclib	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
Malignant Breast Neoplasm2
RB1 Loss-of-function	Palbociclib	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 ·

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.

Osteosarcoma1
RB1 Loss-of-function	Niraparib + Olaparib + TalazoparibSubstitutes	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

Triple-Negative Breast Carcinoma3
RB1 Loss-of-function	Checkpoint Kinase Inhibitor AZD7762	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
RB1 Loss-of-function	Gemcitabine	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
RB1 Loss-of-function	Volasertib	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