Germline BRCA1/2 mutation status
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-BRCA-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | Гермінальний статус мутацій BRCA1/2 |
| Status | pending_clinical_signoff |
| Diseases | None declared |
| Sources | None declared |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss-of-function (HRR pathway)", "gene": "BRCA1, BRCA2", "inheritance": "germline", "type": "various pathogenic / likely-pathogenic variants"} |
| Measurement | MethodNGS panel (germline) with Sanger confirmation of variants of interest Sensitivity requirementPathogenic variants captured per ACMG variant-classification standards |
| Related biomarkers | BIO-HRR-PANEL |
Notes
Germline testing should be offered to all metastatic prostate patients per NCCN 2025 (regardless of family history). Cascade testing important for relatives. Germline + tumor (somatic) testing complementary.
Used By
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-HRR-PANEL- Homologous recombination repair (HRR) gene panel statusBIO-PALB2-GERMLINE- Germline PALB2 pathogenic variant
Indications
IND-BREAST-BRCA-POS-MET-PARPI- IND-BREAST-BRCA-POS-MET-PARPIIND-OVARIAN-MAINT-BEV- IND-OVARIAN-MAINT-BEV
Questionnaires
QUEST-BREAST-1L-STUB- Invasive breast cancer — first lineQUEST-OVARIAN-1L-STUB- Ovarian carcinoma — first line
Red flag
RF-BREAST-HIGH-RISK-BIOLOGY- Germline or somatic BRCA1/2 mutation, PIK3CA mutation, ESR1 mutation, HER2-amplification,...RF-CHOLANGIOCARCINOMA-HIGH-RISK-BIOLOGY- Actionable molecular alteration in cholangiocarcinoma — FGFR2 fusion / rearrangement, IDH...RF-PROSTATE-HIGH-RISK-BIOLOGY- Germline or somatic BRCA1/2 mutation OR broader HRR pathway alteration (ATM, CDK12, PALB2...
Tests
TEST-GERMLINE-BRCA-PANEL- Germline BRCA1/2 + HRR panel sequencing