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Gene

RAD50

RAD50 is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (2), Actionable biomarkers (2), Trial mentions (32), and 6 more evidence types, each linked to its source.

Ensembl ENSG00000113522 UniProt Q92878 Matched to Ensembl and UniProt
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Assay-provider ledger Assay-provider ledger 2 Actionable biomarkers Actionable biomarkers 2 Trial mentions Trial mentions 32 Target-disease associations Target-disease associations 556 Vendor sourcing Vendor sourcing 138 Trial-cited literature Trial-cited literature 145 Protein variant mentions Protein variant mentions 71 Literature-extracted relations Literature-extracted relations 11 Assay-provider ledger Assay-provider ledger 2 Actionable biomarkers Actionable biomarkers 2 Trial mentions Trial mentions 32 Target-disease associations Target-disease associations 556 Vendor sourcing Vendor sourcing 138 Trial-cited literature Trial-cited literature 145 Protein variant mentions Protein variant mentions 71 Literature-extracted relations Literature-extracted relations 11

Rows recorded per section (log scale)

1 more section with rows · 3 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 RAD50. 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: 4 at the structurally incomplete recent edge.

The yearly numbers
RAD50 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 2 of 8,738 0.02% not measured
2025 0 of 8,875 0.00% not measured
2024 0 of 8,597 0.00% not measured
2023 3 of 8,275 0.04% 8 of 11,460 0.07%
2022 5 of 8,285 0.06% 16 of 13,598 0.12%
2021 7 of 8,692 0.08% 19 of 15,045 0.13%
2020 4 of 7,640 0.05% 11 of 14,459 0.08%
2019 1 of 7,300 0.01% 10 of 12,159 0.08%
2018 4 of 6,927 0.06% 14 of 11,854 0.12%
2017 2 of 6,558 0.03% 11 of 11,595 0.09%

Assay-provider ledger (2)

Shown in this order: most recent publication first.

Assay-provider ledger
Company Provider class Validation Papers Most recent publication
New Amsterdam Genomics, Inc. Diagnostic provider Clinical validationAnalytical validation 1 March 01, 2020
InVitae Diagnostic provider Clinical validation 1 February 20, 2019

Actionable biomarkers (2)

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

Actionable biomarkers
Alteration Drug Response Disease Source
RAD50 (L1237F) + ATM deletion Irinotecan response-associated No disease recorded Cancer Genome Interpreter
RAD50 (L1237F) + ATM deletion Chk1/2 Inhibitor response-associated No disease recorded Cancer Genome Interpreter

Trial mentions (32)

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

Trial mentions
Trial Source
NCT04706663 Trial eligibility (AACT)
NCT04666740 Trial eligibility (AACT)
NCT04187833 Trial eligibility (AACT)
NCT03413995 Trial eligibility (AACT)
NCT05967286 Trial eligibility (AACT)

Target-disease associations (556)

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

Target-disease associations
Disease Therapeutic area Source
46,XX gonadal dysgenesis endocrine system disease Mouse knockout (IMPC)
46,XY complete gonadal dysgenesis cardiovascular disease Mouse knockout (IMPC)
46,XY disorder of sex development due to isolated 17,20 lyase deficiency cancer or benign tumor Mouse knockout (IMPC)
46,XY gonadal dysgenesis - motor and sensory neuropathy cancer or benign tumor Mouse knockout (IMPC)
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome cardiovascular disease Mouse knockout (IMPC)

Vendor sourcing (138)

Shown in this order: alphabetical by organization.

Vendor sourcing
Organization Role Tier Evidence Citation
AbbVie Inc. Trial collaborator Named in trial inclusion criteriaTrial eligibility criteria : * Patients must have a histologically documented (either primary or metastatic site) diagnosis of advanced solid tumor cancer (stage IV or unresectable) o... View trial NCT03061188
AbbVie Inc. Trial collaborator Mentioned in trial textTrial free-text mention RAD50 View trial NCT03061188
Ambry Genetics (United States) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission The p.Q941* pathogenic mutation (also known as c.2821C>T), located in coding exon 17 of the RAD50 gene, results from a C to T substitution at nucleotide posi... View ClinVar record SCV000053547.10
Asan Medical Center Trial sponsor Named in trial inclusion criteriaTrial eligibility criteria : * Capable of giving signed informed consent which includes compliance with the requirements and restrictions listed in the informed consent form (ICF) and... View trial NCT05222971
Asan Medical Center Trial sponsor Mentioned in trial textTrial free-text mention RAD50 View trial NCT05222971

Trial-cited literature (145)

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

Trial-cited literature
Publication Journal Year Citations
Cancer of the ovary, fallopian tube, and peritoneum: 2025 update. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2025 27
Phase II Study of Niraparib in Patients With Advanced Melanoma With Homologous Recombination Pathway Gene Mutations. JCO precision oncology 2025 9
Durable responses to ATR inhibition with ceralasertib in tumors with genomic defects and high inflammation. The Journal of clinical investigation 2024 47
Phase II Trial of the PARP Inhibitor, Niraparib, in BAP1 and Other DNA Damage Response Pathway-Deficient Neoplasms. JCO precision oncology 2024 20
Pathogenesis of allergic diseases and implications for therapeutic interventions. Signal transduction and targeted therapy 2023 286

Protein variant mentions (71)

Shown in this order: alphabetical by variant.

Protein variant mentions
Variant Distinct papers Year range Sample papers
p.A232D 1 2015 PMID 25741868
p.A40V 1 2015 PMID 25741868
p.C133F 1 2015 PMID 25741868
p.D1065N 1 2016 PMID 26467025
p.D1120H 1 2015 PMID 25503501

Literature-extracted relations (11)

Shown in this order: chemicals, then diseases.

Literature-extracted relations
Related entity Kind Source relation label Paper Year
Platinum Chemical associate Complex molecular profile of DNA repair genes in epithelial ovarian carcinoma patients with different sensitivity to platinum-based therapy. 2022
Platinum Chemical associate Germline mutations of the DNA repair pathways in uterine serous carcinoma. 2016
Irinotecan Chemical associate Synthetic lethality in ATM-deficient RAD50-mutant tumors underlies outlier response to cancer therapy. 2014
GEMCITABINE Chemical associate ATM and the Mre11-Rad50-Nbs1 complex respond to nucleoside analogue-induced stalled replication forks and contribute to drug resistance. 2008
Nucleosides Chemical associate ATM and the Mre11-Rad50-Nbs1 complex respond to nucleoside analogue-induced stalled replication forks and contribute to drug resistance. 2008

Organizations publishing (263)

Shown in this order: most papers first.

Organizations publishing
Organization Type Papers Years
The University of Texas System Academic 13 2008 to 2023
Government of the United States of America Government 8 2010 to 2021
Memorial Sloan Kettering Cancer Center Hospital 6 2014 to 2023
Harvard Medical School Academic 5 2015 to 2018
University of Copenhagen Academic 4 2014 to 2022

Where RAD50 appears

  • 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
  • integumentary system disease
  • measurement
  • musculoskeletal or connective tissue disease
  • nervous system disease
  • phenotype
  • reproductive system or breast disease
  • respiratory or thoracic disease
  • urinary system disease

526 diseases touched.

Not on this page

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

Browse all biomarker evidence pages