Gene Variant Detail

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Gene RB1
Variant positive
Impact List unknown
Protein Effect unknown
Gene Variant Descriptions RB1 positive indicates the presence of the RB1 gene, mRNA, and/or protein.
Associated Drug Resistance

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No Variant Reference Transcript is Available.
No transcript is Available.

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 colon cancer sensitive SHR6390 Preclinical - Cell line xenograft Actionable In a preclinical study, SHR6390 (dalpiciclib) inhibited CDK4/6-RB pathway activation, leading to growth inhibition in an RB1-positive colon cancer cell line in culture, and tumor regression in a cell line xenograft model (PMID: 30724426). 30724426
RB1 positive prostate cancer no benefit Palbociclib Phase II Actionable In a Phase II trial, addition of Ibrance (palbociclib) to androgen deprivation therapy (ADT) did not improve the rate of PSA less or equal to 4 ng/ml at 28 weeks (80%, 32/40 vs 80%, 16/20, p=0.87), PSA undetectable rate at 28 weeks (43% vs 50%, p=0.5), radiographic response rate (89% vs 89%), or 12-month biochemical progression-free survival (74% vs 69%, p=0.72) in patients with metastatic hormone-sensitive prostate cancer expressing Rb1 as confirmed by IHC (PMID: 33727260; NCT02059213). 33727260
RB1 positive breast cancer predicted - sensitive Paclitaxel + Palbociclib Phase I Actionable In a Phase I trial, alternating sequential treatment with Ibrance (palbociclib) and Taxol (paclitaxel) resulted in a median progression-free survival (mPFS) of 209 days in patients with Rb1-positive breast cancer, with a mPFS of 802 days and a clinical benefit rate of 55.6% (5/9) at the recommended phase II dose (PMID: 30635336; NCT01320592). 30635336
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, PMID: 24795392). detail... 24795392 27542767
RB1 positive glioblastoma 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 Advanced Solid Tumor sensitive SHR6390 Preclinical - Cell culture Actionable In a preclinical study, SHR6390 (dalpiciclib) inhibited CDK4/6-RB pathway signaling, leading to cell cycle arrest and inhibition of proliferation in a panel of RB1-positive tumor cell lines in culture, and tumor growth inhibition in cell line xenograft models (PMID: 30724426). 30724426
CDKN2A del RB1 pos glioblastoma predicted - sensitive Ribociclib Phase 0 Actionable In a Phase 0 trial, Kisqali (ribociclib) demonstrated good CNS penetration and inhibited Rb1 phosphorylation and tumor cell proliferation, resulted in a median progression-free survival of 9.7 weeks and a median overall survival of 7.8 months in patients (n=6) with recurrent glioblastoma with intact Rb1 expression and harboring deletion of CDKN2A or amplification of CDK4 or CDK6 (PMID: 31285369; NCT02933736). 31285369
BRAF V600E/K CDKN2A loss RB1 pos melanoma predicted - sensitive Palbociclib + Vemurafenib Phase Ib/II Actionable In a phase I/II trial, Ibrance (palbociclib) plus Zelboraf (vemurafenib) was safe and resulted in an overall response rate (ORR) of 26.7% (4/15), disease control rate (DCR) of 80% (12/15), and progression-free survival (PFS) of 2.8 mo in metastatic melanoma patients with prior BRAF inhibitor treatment and BRAF V600E/K, CDKN2A loss, and RB1 expression, and an ORR of 27.8% (5/18), DCR of 83.3% (10/18) and 2.8 mo PFS when combined with pts without prior BRAF inhibitor treatment (PMID: 33947696; NCT02202200). 33947696
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
RB1 positive unknown
CDKN2A del RB1 pos
BRAF V600E/K CDKN2A loss RB1 pos