BRCA1/BRCA2 germline pathogenic variant
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-BRCA1-BRCA2-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | Germline BRCA1/BRCA2 mutationgBRCA1gBRCA2Зародкова патогенна варіація BRCA1/BRCA2 |
| Status | reviewed 2026-04-26 |
| Diseases | None declared |
| Sources | SRC-NCCN-PANCREATIC-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss of homologous recombination repair", "gene": "BRCA1, BRCA2", "inheritance": "germline", "variant_type": "loss-of-function (frameshift, nonsense, splice, large deletions)"} |
| Measurement | MethodGermline NGS panel (multi-gene HRD panel preferred over BRCA1/2 only) on blood or saliva Unitscategorical: pathogenic | likely_pathogenic | VUS | benign | absent |
| Related biomarkers | None declared |
Used By
Actionability
BMA-BRCA1-GERMLINE-BREAST- BRCA1 germline pathogenic in HER2-negative metastatic breast (HR+ or TNBC): olaparib (Oly...BMA-BRCA1-GERMLINE-OVARIAN- BRCA1 germline pathogenic variants in advanced epithelial ovarian carcinoma (incl. fallop...BMA-BRCA1-GERMLINE-PDAC- BRCA1 germline pathogenic in metastatic PDAC after ≥16 weeks of platinum without progress...BMA-BRCA1-GERMLINE-PROSTATE- BRCA1 germline pathogenic in mCRPC: olaparib improves rPFS and OS post-NHA (PROfound Coho...BMA-BRCA2-GERMLINE-BREAST- BRCA2 germline pathogenic in HER2-negative metastatic breast: olaparib (OlympiAD) and tal...BMA-BRCA2-GERMLINE-MELANOMA- BRCA2 germline pathogenic confers ~2-3× elevated cutaneous melanoma risk and uveal-melano...BMA-BRCA2-GERMLINE-OVARIAN- BRCA2 germline pathogenic in advanced EOC: olaparib 1L maintenance (SOLO1) → median PFS n...BMA-BRCA2-GERMLINE-PDAC- BRCA2 germline pathogenic in metastatic PDAC: olaparib maintenance after ≥16 weeks platin...BMA-BRCA2-GERMLINE-PROSTATE- BRCA2 germline pathogenic in mCRPC: largest PARPi benefit in HRR pathway (PROfound Cohort...
Biomarker
BIO-ATM-CHEK2-CDK12-GERMLINE- Germline ATM / CHEK2 / CDK12 pathogenic variant (HRR/DDR composite)BIO-BRCA-SOMATIC- Somatic BRCA1/BRCA2 pathogenic variantBIO-CDH1-GERMLINE- Germline CDH1 pathogenic variantBIO-HRD-ASSAY-DISTINCTION- HRD assay distinction (Myriad myChoice CDx vs FoundationOne CDx)BIO-HRD-STATUS- Homologous recombination deficiency (HRD) statusBIO-PALB2-GERMLINE- Germline PALB2 pathogenic variant
Indications
IND-BREAST-BRCA-MET-TALAZOPARIB- IND-BREAST-BRCA-MET-TALAZOPARIBIND-BREAST-TNBC-2L-BRCA-OLAPARIB- IND-BREAST-TNBC-2L-BRCA-OLAPARIBIND-BREAST-TNBC-2L-BRCA-TALAZOPARIB- IND-BREAST-TNBC-2L-BRCA-TALAZOPARIBIND-OVARIAN-MAINT-PARPI-BRCAM-OLAPARIB- IND-OVARIAN-MAINT-PARPI-BRCAM-OLAPARIBIND-PDAC-MAINTENANCE-OLAPARIB-BRCA- IND-PDAC-MAINTENANCE-OLAPARIB-BRCA
Questionnaires
QUEST-BREAST-1L-STUB- Invasive breast cancer — first lineQUEST-OVARIAN-1L-STUB- Ovarian carcinoma — first lineQUEST-PDAC-1L-STUB- Pancreatic ductal adenocarcinoma — first line