# Germline BRCA mutation (gBRCA)

Source: https://onco.cc/terms/gbrca-mutation/  
OnCo record `gbrca-mutation` (Term). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

An inherited fault in the BRCA1 or BRCA2 gene, present in every cell from birth, that greatly raises the risk of breast, ovarian, prostate and pancreatic cancer and makes those cancers sensitive to PARP inhibitors and platinum.

## Summary

About 1 in 300-400 people (1 in 40 in Ashkenazi Jews) carries a pathogenic germline BRCA variant; lifetime breast cancer risk is 60-70% and ovarian 20-45%. Testing is now offered to all ovarian, pancreatic and metastatic prostate cancer patients, to triple-negative and young breast cancer patients, and increasingly to all breast cancer patients, with cascade testing of relatives. Carriers get intensified screening, risk-reducing mastectomy and salpingo-oophorectomy, and PARP inhibitors: adjuvant olaparib (OlympiA), maintenance in ovarian cancer (SOLO-1) and in prostate and pancreatic cancer. Somatic (tumour-only) BRCA mutations respond similarly; HRR genes such as PALB2, ATM and RAD51C extend the concept.

## Fields

- Kind: Term
- Last checked: 2026-09-09
- Also known as: gBRCA; gBRCAm; BRCA-mutated; BRCA-mutant; BRCA mutation; BRCA carriers; BRCA carrier; BRCA1/2; BRCA1; BRCA2; sBRCA; somatic BRCA; BRCA-deficient; BRCA wild-type; BRCA status; HRR mutation; HRR-mutant; HRRm; PALB2; BRCA mutations

## Sources

- Wikipedia: https://en.wikipedia.org/wiki/BRCA_mutation
- Wikipedia: https://en.wikipedia.org/wiki/BRCA_mutation

## Connected records

- terms: [Association for Molecular Pathology v. Myriad Genetics (2013)](https://onco.cc/terms/myriad-ruling/), [BRCA reversion mutations](https://onco.cc/terms/brca-reversion-mutations/), [Familial pancreatic cancer and inherited risk (who qualifies for surveillance)](https://onco.cc/terms/familial-pancreatic-cancer/), [Germline vs somatic mutations](https://onco.cc/terms/germline-vs-somatic/), [GINA (Genetic Information Nondiscrimination Act 2008)](https://onco.cc/terms/gina/), [Hereditary cancer syndromes](https://onco.cc/terms/hereditary-cancer-syndromes/), [Homologous recombination deficiency (HRD)](https://onco.cc/terms/hrd/), [Mastectomy](https://onco.cc/terms/mastectomy/), [Residual disease after neoadjuvant therapy in triple-negative breast cancer: the decision point](https://onco.cc/terms/tnbc-residual-disease-decision/), [Salpingo-oophorectomy](https://onco.cc/terms/salpingo-oophorectomy/)
- cancers: [BRCA or PALB2-mutant pancreatic ductal adenocarcinoma](https://onco.cc/cancers/brca-palb2-pdac/), [HR-positive metastatic breast cancer after CDK4/6 inhibitors](https://onco.cc/cancers/hr-positive-metastatic-post-cdk46/), [Male breast cancer](https://onco.cc/cancers/male-breast-cancer/), [Metastatic castration-resistant prostate cancer](https://onco.cc/cancers/prostate-mcrpc/), [Metastatic pancreatic ductal adenocarcinoma](https://onco.cc/cancers/metastatic-pdac/), [Metastatic triple-negative breast cancer](https://onco.cc/cancers/tnbc-metastatic/), [Ovarian cancer](https://onco.cc/cancers/ovarian/), [Pancreatic acinar cell carcinoma](https://onco.cc/cancers/pancreatic-acinar-cell-carcinoma/), [Pancreatic ductal adenocarcinoma](https://onco.cc/cancers/pancreatic/), [Prostate cancer](https://onco.cc/cancers/prostate/), [Resectable pancreatic ductal adenocarcinoma](https://onco.cc/cancers/resectable-pdac/), [Triple-negative breast cancer (TNBC)](https://onco.cc/cancers/tnbc/)
- fronts: [Prevention & Risk](https://onco.cc/fronts/prevention/), [Targeted Therapy](https://onco.cc/fronts/targeted-therapy/)
- technologies: [Germline (hereditary) testing](https://onco.cc/technologies/germline-testing/), [PARP inhibitors](https://onco.cc/technologies/parp-inhibitor/)
- targets: [BRCA1 / BRCA2 (HRD)](https://onco.cc/targets/brca/)
- drugs: [BRACAnalysis CDx](https://onco.cc/drugs/bracanalysis-cdx/), [Olaparib](https://onco.cc/drugs/olaparib/)
- trials: [BROCADE3](https://onco.cc/trials/brocade3/), [Efficacy and Safety Comparison of Niraparib to Placebo in Participants With Human Epidermal Growth Factor 2 Negative (HER2-) Breast Cancer Susceptibility Gene Mutation (BRCAmut) or Triple-Negative Breast Cancer (TNBC) With Molecular Disease](https://onco.cc/trials/nct04915755/), [EMBRACA](https://onco.cc/trials/embraca/), [OlympiA](https://onco.cc/trials/olympia/), [OlympiAD](https://onco.cc/trials/olympiad/), [PARTNER](https://onco.cc/trials/partner/), [TNT (Triple Negative Trial)](https://onco.cc/trials/tnt/)
- key papers: [A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas](https://onco.cc/key-papers/paper-donenberg-bahamas-brca1-founder-bcrt-2011/), [Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer](https://onco.cc/key-papers/paper-hu-germline-mutations-pancreatic-cancer-risk-jama-2018/), [Biomarker analyses in the phase III ASCENT study of sacituzumab govitecan versus chemotherapy in patients with metastatic triple-negative breast cancer](https://onco.cc/key-papers/paper-bardia-ascent-trop2-biomarker-ann-oncol-2021/), [Carboplatin in BRCA1/2-mutated and triple-negative breast cancer BRCAness subgroups: the TNT Trial](https://onco.cc/key-papers/paper-tutt-nat-med/), [Deleterious germline mutations in patients with apparently sporadic pancreatic adenocarcinoma](https://onco.cc/key-papers/paper-shindo-germline-sporadic-pancreatic-jco-2017/), [Genomic analysis of circulating tumour DNA in 3,334 patients with advanced prostate cancer identifies targetable BRCA alterations and AR resistance mechanisms](https://onco.cc/key-papers/paper-tukachinsky-ctdna-3334-advanced-prostate-ccr-2021/), [Germline BRCA mutation evaluation in a prospective triple-negative breast cancer registry: implications for hereditary breast and/or ovarian cancer syndrome testing](https://onco.cc/key-papers/paper-sharma-tnbc-registry-germline-brca-bcrt-2014/), [Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis and poor survival outcomes in prostate cancer](https://onco.cc/key-papers/paper-castro-germline-brca-prostate-outcomes-jco-2013/), [Germline BRCA2 mutations drive prostate cancers with distinct evolutionary trajectories](https://onco.cc/key-papers/paper-taylor-germline-brca2-evolutionary-trajectories-nat-commun-2017/), [Germline mutation status, pathological complete response, and disease-free survival in triple-negative breast cancer: secondary analysis of the GeparSixto randomized clinical trial](https://onco.cc/key-papers/paper-hahnen-geparsixto-germline-brca-jama-oncol-2017/), [Germline testing in patients with breast cancer: ASCO-Society of Surgical Oncology guideline](https://onco.cc/key-papers/paper-bedrosian-asco-sso-germline-testing-breast-jco-2024/), [Implementation and audit of mainstream genetic testing within a high-volume UK breast unit for pathogenic variations associated with breast cancer using the R208 and R444.1 National Test Directory criterion](https://onco.cc/key-papers/paper-conroy-nhs-r208-mainstream-testing-audit-breast-j-2026/), [Inherited breast cancer in Nigerian women](https://onco.cc/key-papers/paper-zheng-nigerian-inherited-breast-cancer-jco-2018/), [Inherited DNA-repair gene mutations in men with metastatic prostate cancer](https://onco.cc/key-papers/paper-pritchard-inherited-dna-repair-metastatic-prostate-nejm-2016/), [Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer](https://onco.cc/key-papers/paper-couch-tnbc-germline-17-genes-jco-2015/), [Intraductal and ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer](https://onco.cc/key-papers/paper-isaacsson-velho-intraductal-germline-dna-repair-prostate-2018/), [Metastatic Pancreatic Cancer: ASCO Guideline Update](https://onco.cc/key-papers/paper-asco-metastatic-pancreatic-cancer-guideline-update-jco-2020/), [Overall survival and clinical characteristics of pancreatic cancer in BRCA mutation carriers](https://onco.cc/key-papers/paper-golan-brca-pancreatic-platinum-survival-bjc-2014/), [POLO final overall survival: maintenance olaparib versus placebo in germline BRCA-mutated metastatic pancreatic cancer](https://onco.cc/key-papers/paper-polo-overall-survival-olaparib-gbrca-pancreatic-jco-2022/), [POLO: maintenance olaparib for germline BRCA-mutated metastatic pancreatic cancer](https://onco.cc/key-papers/paper-polo-olaparib-maintenance-gbrca-pancreatic-nejm-2019/), [Prevalence of germline variants in prostate cancer and implications for current genetic testing guidelines](https://onco.cc/key-papers/paper-nicolosi-germline-variants-prostate-testing-guidelines-jama-oncol-2019/), [PROfound: olaparib for metastatic castration-resistant prostate cancer with homologous recombination repair gene alterations](https://onco.cc/key-papers/paper-profound-nejm-2020/), [Prospective evaluation of germline alterations in patients with exocrine pancreatic neoplasms](https://onco.cc/key-papers/paper-lowery-prospective-germline-exocrine-pancreatic-jnci-2018/), [The impact of expanded access to germline high penetrance genetic testing for women with a new diagnosis of invasive breast cancer or high-grade DCIS](https://onco.cc/key-papers/paper-hudson-phillips-expanded-germline-testing-clin-breast-cancer-2026/), [The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer](https://onco.cc/key-papers/paper-villarreal-garza-mexican-tnbc-brca-bcrt-2015/), [The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews](https://onco.cc/key-papers/paper-struewing-brca-founder-mutations-ashkenazi-nejm-1997/), [Triple-negative breast cancer risk genes identified by multigene hereditary cancer panel testing](https://onco.cc/key-papers/paper-shimelis-tnbc-risk-genes-jnci-2018/), [TRITON2: rucaparib in men with metastatic castration-resistant prostate cancer harbouring a BRCA1 or BRCA2 alteration](https://onco.cc/key-papers/paper-abida-triton2-rucaparib-brca-jco-2020/), [Whole genomes redefine the mutational landscape of pancreatic cancer](https://onco.cc/key-papers/paper-waddell-whole-genomes-pancreatic-nature-2015/)
- roadmaps: [Pancreatic cancer roadmap: from Whipple's operation to gemcitabine, FOLFIRINOX, adjuvant chemotherapy, PARP inhibition, KRAS inhibition, vaccines and the surveillance question](https://onco.cc/roadmaps/pancreatic-roadmap/)
- ideas: [Surveillance for every germline carrier found by universal testing, inside a registry rather than a research exception](https://onco.cc/ideas/idea-pdac-surveillance-for-every-germline-carrier/)
- biomarkers: [Germline BRCA1/2 pathogenic variant (gBRCAm)](https://onco.cc/biomarkers/brca-germline/), [Homologous recombination repair gene mutation in prostate cancer](https://onco.cc/biomarkers/hrr-gene-mutation/)

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