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Gene

RB1

RB1 is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (59), Actionable biomarkers (8), Trial mentions (65), and 7 more evidence types, each linked to its source.

Ensembl ENSG00000139687 UniProt P06400 Matched to Ensembl and UniProt
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Assay-provider ledger Assay-provider ledger 59 Actionable biomarkers Actionable biomarkers 8 Trial mentions Trial mentions 65 Target-disease associations Target-disease associations 755 Vendor sourcing Vendor sourcing 236 Trial-cited literature Trial-cited literature 928 Protein variant mentions Protein variant mentions 47 Human sample screening reference Human sample screening reference 21 Assay-provider ledger Assay-provider ledger 59 Actionable biomarkers Actionable biomarkers 8 Trial mentions Trial mentions 65 Target-disease associations Target-disease associations 755 Vendor sourcing Vendor sourcing 236 Trial-cited literature Trial-cited literature 928 Protein variant mentions Protein variant mentions 47 Human sample screening reference Human sample screening reference 21

Rows recorded per section (log scale)

2 more sections with rows · 2 sections measured, none recorded

Cancer actionable (CGI)

Curated as clinically actionable in cancer by the Cancer Genome Interpreter.

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The PDF carries up to 50 rows of each section, where the page shows the first few, with the sources listed. Enter a work email and confirm it from the message we send, and the report follows by email.

Evidence over time

Share of that year: what fraction of the trials and papers our biomarker dictionary matched in a year mention RB1. The denominator is documents that mention any gene, not every registered document, so improving the matcher moves both halves and never rewrites history. Gene named in free-text trial records. A mention, not a validated biomarker. Actionable-biomarker and target-disease-association evidence carries no date in our sources, so it is not on this chart. Publication mentions cover only papers cited by a registered clinical trial, not all of PubMed.

Trial mentions: plotted from 1990 to 2026, the years our matched corpus covers.

Publication mentions: plotted from 1990 to 2023, the years our matched corpus covers. Not plotted: 1 dated before 1990 and 22 at the structurally incomplete recent edge.

The yearly numbers
RB1 per year, by evidence type, the most recent 10 years, newest first; the chart covers 1990 to 2026. The share is of the trials and papers our biomarker dictionary matched that year, not of the literature at large, and a blank year is one our matched corpus does not cover at all.
Year Trial mentions Share of that year Publication mentions Share of that year
2026 7 of 8,738 0.08% not measured
2025 3 of 8,875 0.03% not measured
2024 13 of 8,597 0.15% not measured
2023 3 of 8,275 0.04% 69 of 11,460 0.60%
2022 4 of 8,285 0.05% 75 of 13,598 0.55%
2021 7 of 8,692 0.08% 96 of 15,045 0.64%
2020 5 of 7,640 0.07% 87 of 14,459 0.60%
2019 4 of 7,300 0.05% 68 of 12,159 0.56%
2018 5 of 6,927 0.07% 68 of 11,854 0.57%
2017 6 of 6,558 0.09% 76 of 11,595 0.66%

Assay-provider ledger (59)

Shown in this order: most recent publication first.

Assay-provider ledger
Company Provider class Validation Papers Most recent publication
University of Minnesota Genomics Center Not a company Clinical validationAnalytical validation 1 April 01, 2026
Promega Reagent supplier Clinical validationAnalytical validation 1 April 23, 2024
ROCHE Context dependent Clinical validationAnalytical validation 4 April 23, 2024
Convergent Genomics Diagnostic provider Clinical validationAnalytical validation 1 September 15, 2023
Agilent Reagent supplier No clinical or analytical validation recorded for this pair 2 July 01, 2021

Actionable biomarkers (8)

Shown in this order: fixed catalogue order, not ranked.

Actionable biomarkers
Alteration Drug Response Disease Source
CDK4 amplification + RB1 expression Cdk4 Inhibitors response-associated liposarcoma Cancer Genome Interpreter
RB1 overexpression Palbociclib response-associated prostate adenocarcinoma Cancer Genome Interpreter
RB1 oncogenic mutation CISPLATIN response-associated No disease recorded Cancer Genome Interpreter
RB1 deletion Hdac Inhibitors response-associated No disease recorded Cancer Genome Interpreter
RB1 deletion Mdm2/mdmx Inhibitors response-associated No disease recorded Cancer Genome Interpreter

Trial mentions (65)

Shown in this order: fixed catalogue order, not by date.

Trial mentions
Trial Source
NCT07597369 Trial biospecimen (AACT)
NCT04164134 Trial eligibility (AACT)
NCT05696626 Trial eligibility (AACT)
NCT04926181 Trial eligibility (AACT)
NCT07218666 Trial eligibility (AACT)

Target-disease associations (755)

Shown in this order: fixed catalogue order, not ranked.

Target-disease associations
Disease Therapeutic area Source
AIDS dementia infectious disease Literature (Europe PMC)
APC-related attenuated familial adenomatous polyposis cancer or benign tumor Mouse knockout (IMPC)
Acute Leukemia cancer or benign tumor Literature (Europe PMC)
Adult-onset autosomal recessive sideroblastic anemia genetic, familial or congenital disease Mouse knockout (IMPC)
Alpha-thalassemia genetic, familial or congenital disease Mouse knockout (IMPC)

Vendor sourcing (236)

Shown in this order: alphabetical by organization.

Vendor sourcing
Organization Role Tier Evidence Citation
1 Million 4 Anna Foundation Trial collaborator Named in trial exclusion criteriaTrial eligibility criteria : * Patients must not be receiving any of the following concomitant medications: \-- Pharmacologic doses of systemic corticosteroids unless for CNS metas... View trial NCT04129151
1 Million 4 Anna Foundation Trial collaborator Mentioned in trial textTrial free-text mention RB1 View trial NCT04129151
3billion, Inc. (South Korea) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Stop-gained (nonsense): predicted to result in a loss or disruption... View ClinVar record SCV005904392.1
ARUP Laboratories (United States) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission The RB1 c.2260G>C; p.Val754Leu variant (rs587778642), to our knowledge, is not reported in the medical literature in individuals affected with an RB1-related... View ClinVar record SCV005879483.1
Alan B. Slifka Foundation Trial collaborator Named in trial exclusion criteriaTrial eligibility criteria : * Patients must not be receiving any of the following concomitant medications: \-- Pharmacologic doses of systemic corticosteroids unless for CNS metas... View trial NCT04129151

Trial-cited literature (928)

Shown in this order: newest first, then most cited.

Trial-cited literature
Publication Journal Year Citations
Osimertinib with or without savolitinib as first-line treatment for MET-aberrant, EGFR-mutant NSCLC: randomized phase 2 trial (FLOWERS). Nature communications 2026 4
Phase II Trial of Risk-Enabled Therapy After Neoadjuvant Chemotherapy for Muscle-Invasive Bladder Cancer (RETAIN 1). Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2025 55
Outcomes of Radium-223 and Stereotactic Ablative Radiotherapy Versus Stereotactic Ablative Radiotherapy for Oligometastatic Prostate Cancers: The RAVENS Phase II Randomized Trial. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2025 24
Induction chemotherapy followed by camrelizumab plus apatinib and chemotherapy as first-line treatment for extensive-stage small-cell lung cancer: a multicenter, single-arm trial. Signal transduction and targeted therapy 2025 20
Acquired gene alterations in patients treated with ribociclib plus endocrine therapy or endocrine therapy alone using baseline and end-of-treatment circulating tumor DNA samples in the MONALEESA-2, -3, and -7 trials. Annals of oncology : official journal of the European Society for Medical Oncology 2025 16

Protein variant mentions (47)

Shown in this order: alphabetical by variant.

Protein variant mentions
Variant Distinct papers Year range Sample papers
p.A392T 1 2015 PMID 25741868
p.A525T 1 2015 PMID 25741868
p.A562P 1 2017 PMID 28270497
p.C706Y 1 2010 PMID 20016488
p.C853Y 1 2015 PMID 25741868

Human sample screening reference (21)

Shown in this order: alphabetical by variant.

Human sample screening reference
Variant GDC project Disease / site Affected cases Profiled cases Observed frequency 95% interval
p.A562P TCGA-OV Not Reported; Cystic, Mucinous and Serous Neoplasms; Ovary; Retroperitoneum and peritoneum 1 603 0.17% 0.03% to 0.93%
p.R251* MMRF-COMMPASS Plasma Cell Tumors; Hematopoietic and reticuloendothelial systems 1 961 0.10% 0.02% to 0.59%
p.R251* TCGA-BLCA Epithelial Neoplasms, NOS; Adenomas and Adenocarcinomas; Squamous Cell Neoplasms; Transitional Cell Papillomas and Carcinomas; Bladder 1 412 0.24% 0.04% to 1.36%
p.R251* TCGA-HNSC Squamous Cell Neoplasms; Base of tongue; Lip; Gum; Hypopharynx; Palate; Other and ill-defined sites in lip, oral cavity and pharynx; Bones, joints and articular cartilage of other and unspecified sites; Other and unspecified parts of tongue; Floor of mouth; Tonsil; Other and unspecified parts of mouth; Oropharynx; Larynx 1 528 0.19% 0.03% to 1.06%
p.R251* TCGA-STAD Adenomas and Adenocarcinomas; Cystic, Mucinous and Serous Neoplasms; Stomach 1 443 0.23% 0.04% to 1.27%

Literature-extracted relations (141)

Shown in this order: chemicals, then diseases.

Literature-extracted relations
Related entity Kind Source relation label Paper Year
FULVESTRANT Chemical negative_correlate Models of Early Resistance to CDK4/6 Inhibitors Unveil Potential Therapeutic Treatment Sequencing. 2025
TELMISARTAN Chemical negative_correlate Antihypertensive drug telmisartan suppresses the proliferation of gastric cancer cells in vitro and in vivo. 2020
(nab)-paclitaxel Chemical associate Randomized Phase II Study of Paclitaxel plus Alisertib versus Paclitaxel plus Placebo as Second-Line Therapy for SCLC: Primary and Correlative Biomarker Analyses. 2020
Progesterone Chemical associate A-Kinase Anchoring Protein 13 (AKAP13) Augments Progesterone Signaling in Uterine Fibroid Cells. 2019
FULVESTRANT Chemical positive_correlate The Genetic Landscape and Clonal Evolution of Breast Cancer Resistance to Palbociclib plus Fulvestrant in the PALOMA-3 Trial. 2018

Organizations publishing (770)

Shown in this order: most papers first.

Organizations publishing
Organization Type Papers Years
Memorial Sloan Kettering Cancer Center Hospital 70 2010 to 2024
Dana-Farber Cancer Institute Other 54 2000 to 2024
Harvard Medical School Academic 47 2000 to 2025
The University of Texas System Academic 46 2011 to 2025
Government of the United States of America Government 44 2000 to 2024

Where RB1 appears

  • animal disease
  • biological_process
  • cancer or benign tumor
  • cardiovascular disease
  • disorder of visual system
  • endocrine system disease
  • gastrointestinal disease
  • genetic, familial or congenital disease
  • hematologic disease
  • immune system disease
  • infectious disease
  • injury, poisoning or other complication
  • integumentary system disease
  • measurement
  • musculoskeletal or connective tissue disease
  • nervous system disease
  • nutritional or metabolic disease
  • phenotype
  • reproductive system or breast disease
  • respiratory or thoracic disease
  • urinary system disease

607 diseases touched.

Not on this page

Checked, with nothing recorded for this biomarker: fda companion diagnostic assertions and fda biomarker qualification projects.

Browse all biomarker evidence pages