Tumour (somatic or germline) BRCA1/2 mutation and HRR gene alterations
Tumour BRCA testing finds BRCA1/2 mutations in the cancer itself, whether inherited or acquired; wider panels add other repair genes such as ATM and PALB2. Ovarian and prostate cancer labels accept the tumour result for PARP inhibitors.
Overview
Sequencing tumour tissue or plasma DNA detects BRCA1/2 mutations regardless of origin (about a third of ovarian tumour BRCA mutations are somatic only) and, on larger panels, alterations in the homologous recombination repair genes. Olaparib is labelled for germline or somatic BRCA-mutated ovarian cancer (first-line and recurrent maintenance), for HRR gene-mutated metastatic castration-resistant prostate cancer after enzalutamide or abiraterone (PROfound; genes listed on the FoundationOne CDx claim), and with abiraterone for BRCA-mutated mCRPC; rucaparib for BRCA-mutated ovarian cancer and mCRPC from plasma; talazoparib with enzalutamide for HRR gene-mutated mCRPC, the label listing ATM, ATR, BRCA1, BRCA2, CDK12, CHEK2, FANCA, MLH1, MRE11A, NBN, PALB2 and RAD51C. FoundationOne CDx and Liquid CDx, FoundationFocus CDxBRCA and myChoice CDx carry the tumour claims.
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · DNA repair genes. Inheriting a broken copy raises breast and ovarian cancer risk, but tumours that lose them become uniquely vulnerable to PARP inhibitors and platinum.
A BRCA mutation found in the tumour opens PARP inhibitor maintenance in ovarian cancer and PARP inhibitor treatment in advanced prostate cancer, whether or not the change is inherited; a follow-up blood test tells you whether it is, which matters for your family. In prostate cancer a wider list of repair genes also counts. If the tumour test was done on blood (ctDNA) and was negative, the labels say tissue should still be tested.
Written only from the label or guideline text cited on this page. Not medical advice; your own report and the reading your team gives it come first.
A deleterious or suspected deleterious BRCA1 or BRCA2 mutation (germline and/or somatic) in tumour tissue or plasma; for the HRR indications, an alteration in one of the label's listed homologous recombination repair genes. A negative plasma result does not exclude a tumour mutation.
“A negative result from a plasma specimen does not mean that the patient's tumor is negative for BRCA mutations.”
Rubraca prescribing information| Threshold | Drug | Cancer | Regulator | Source |
|---|---|---|---|---|
| Germline or somatic BRCA mutation | Olaparib | Ovarian cancer | FDA | label |
| Germline or somatic HRR gene mutation | Olaparib | Metastatic castration-resistant prostate cancer | FDA | label |
| BRCA mutation (germline and/or somatic) | Rucaparib | Ovarian cancer | FDA | label |
| HRR gene alteration (ATM, ATR, BRCA1, BRCA2, CDK12, CHEK2, FANCA, MLH1, MRE11A, NBN, PALB2, RAD51C) | Talazoparib | Metastatic castration-resistant prostate cancer | FDA | label |
| Device | Maker | Indication and sample | Drug | PMA / 510(k) |
|---|---|---|---|---|
| FoundationOne CDx | Foundation Medicine | Ovarian Cancer - Tissue | Olaparib | P170019/S004 (07/01/2019) |
| FoundationOne CDx | Foundation Medicine | Metastatic Castrate Resistant Prostate Cancer (mCRPC) - Tissue (HRR genes) | Olaparib | P170019/S015 (05/19/2020) |
| FoundationOne Liquid CDx | Foundation Medicine | Metastatic Castrate Resistant Prostate Cancer (mCRPC) - Plasma | Rucaparib | P190032 (08/26/2020) |
| FoundationFocus CDxBRCA Assay | Foundation Medicine | Ovarian Cancer - Tissue | Rucaparib | P160018 (12/19/2016) |
| FoundationOne CDx | Foundation Medicine | Metastatic Castrate Resistant Prostate cancer (mCRPC) - Tissue (HRR genes) | TalazoparibEnzalutamide | P170019/S060 (05/27/2026) |
Matched on the name and aliases of the readout in the title, setting and summary of each trial; a match is a mention, not proof the readout was an entry criterion.
- NCT02647099 · 2025ALASCCA
- NCT03673501 · 2024A Study of Ripretinib vs Sunitinib in Advanced GIST Patients After Treatment With Imatinib
- NCT04488822 · 2023A Study of the Efficacy and Safety of Pexidartinib in Adult Subjects With TGCT
- NCT02494570 · 2021AMPECT
- NCT00653068 · 2020ACNS0333
- NCT00027846 · 2019ACNS0121
- NCT01602666 · 2019ACNS1123
- NCT00499616 · 2019ANBL0531
- NCT01480479 · 2016ACT IV
- NCT00047320 · 2015ACNS0122
- NCT05208047(Peak) A Phase 3 Randomized Trial of CGT9486+Sunitinib vs. Sunitinib in Subjects With Gastrointestinal Stromal Tumors
- NCT06783647A Clinical Trial of LBL-024 Combination Drug in Patients With Advanced Solid Tumours[Substudy 01(NSCLC)]
- NCT07111546A Clinical Trial of LBL-024 Combination Drug in Patients With Advanced Solid Tumours[Substudy 02(BTC&HCC)]
- NCT05120349A Global Study to Assess the Effects of Osimertinib in Participants With EGFRm Stage IA2-IA3 NSCLC Following Complete Tumour Resection
- NCT06630234A Master Protocol to Evaluate DCC-3009 in Gastrointestinal Stromal Tumor (GIST)
- NCT04538742A Phase 1b/2 Study of T-DXd Combinations in HER2-positive Metastatic Breast Cancer
- NCT06915142A Phase II Clinical Study of HRS-7058 in Combination With Antitumor Drugs in Patients With Advanced Malignant Tumour
- NCT07331155A Phase II Clinical Study of LBL-024 Combination Therapy in Patients With Advanced Solid Tumour[Substudy 03(ESCC)]
- NCT07390383A Phase II Clinical Trial of LBL-024 Combination Drug in Patients With Advanced Solid Tumour[Substudy 04]
- NCT06564844A Phase III, Randomised Study of Adjuvant Dato-DXd in Combination With Rilvegostomig or Rilvegostomig Monotherapy Versus Standard of Care, Following C
- NCT06717126A Randomised Phase II Study of Roginolisib in Patients With Advanced/Metastatic Uveal Melanoma
- NCT07541430A Study in Adults With Desmoid Tumors
- NCT05526755A Study of 5 Years of Adjuvant Osimertinib in Completely Resected Epidermal Growth Factor Receptor Mutation (EGFRm) Non-small Cell Lung Carcinoma (NSCLC)
- NCT04871282A Study of AL102 in Patients With Progressing Desmoid Tumors
- NCT06345729A Study of Calderasib (MK-1084) Plus Pembrolizumab (MK-3475) in Participants With KRAS G12C Mutant Non-small Cell Lung Cancer (NSCLC) With Programmed Cell Death Ligand 1 (PD-L1) Tumor Proportion Score (TPS) ≥50% (MK-1084-004/KANDLELIT-004)
- NCT07139873A Study of DZD8586 Versus Investigator's Choice in r/r CLL/SLL (TAI-SHAN6)
- NCT07218926A Study of IDRX-42 (GSK6042981) Versus (vs) Sunitinib in Participants With Gastrointestinal Stromal Tumors After Imatinib Therapy
- NCT06952803A Study of Metastases Free Survival With Saruparib vs Placebo Added to a Standard RT/ADT in Men With High-risk Prostate Cancer With a BRCA Mutation
- NCT07170644A Study of Nirogacestat in Japanese Adults With Desmoid Tumors/Aggressive Fibromatosis (DT/AF)
- NCT06833008A Study to Assess a New Medicine Called IPN01195 When Administered Alone in Adults With Advanced Solid Tumours
- NCT07213830A Study to Assess the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, Immunogenicity and Anti-tumour Activity of IPN01203 in Adults With Locally Advanced or Metastatic Solid Tumours Exposed to Immune Checkpoint Inhibitor Therapies
- NCT07128199A Study to Assess Zipalertinib Versus Placebo in Participants With Early Stage NSCLC With Uncommon EGFR Mutations, Following Complete Tumor Resection
- NCT07585266A Study to Investigate Velzatinib Compared With Imatinib in Adult Participants With Previously Untreated Metastatic and/or Unresectable Gastrointestinal Stromal Tumors (StrateGIST Frontline)
- NCT02724579ACNS1422
- NCT05580562ACTION
- NCT02804815Add-Aspirin
- NCT03067181AGCT1531
- NCT02194738ALCHEMIST (Adjuvant Lung Cancer Enrichment Marker Identification and Sequencing Trials)
- NCT02049905Aldoxorubicin versus investigator's choice in relapsed or refractory soft tissue sarcoma
- NCT05413850Anti-tumour Activity of (177Lu) rhPSMA-10.1 Injection
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