Germline BRCA mutation (gBRCA)
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.
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.
Pages like this
not linked directly; found by shared links- PairingGermline BRCA test → adjuvant PARP inhibitor
Shares OlympiA, PARP inhibitors, Olaparib, BRCA1 / BRCA2 (HRD).
- PersonMary-Claire King
Shares Hereditary cancer syndromes, Germline vs somatic mutations, PARP inhibitors, BRCA1 / BRCA2 (HRD).
- TrialPOLO
Shares PARP inhibitors, Olaparib, BRCA1 / BRCA2 (HRD), Germline (hereditary) testing.
- PathwayDouble-strand break repair: HR versus end joining
Shares Hereditary cancer syndromes, Homologous recombination deficiency (HRD), Germline vs somatic mutations, PARP inhibitors.
- IdeaA functional test for homologous recombination deficiency validated across laboratories
Shares Homologous recombination deficiency (HRD), PARP inhibitors, Olaparib, BRCA1 / BRCA2 (HRD).
- Key paperSOLO-1: two years of olaparib maintenance after first-line chemotherapy for BRCA-mutated ovarian cancer
Shares Homologous recombination deficiency (HRD), Germline vs somatic mutations, PARP inhibitors, Olaparib.
- IdeaAutomatic germline testing for every cancer type where it changes care
Shares Germline vs somatic mutations, Germline (hereditary) testing, Ovarian cancer, Pancreatic ductal adenocarcinoma.
- PersonAlan Ashworth
Shares PARP inhibitors, Olaparib, BRCA1 / BRCA2 (HRD), Ovarian cancer.