Somatic BRCA1/BRCA2 pathogenic variant
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-BRCA-SOMATIC |
|---|---|
| Type | Biomarker |
| Aliases | Somatic BRCA1/BRCA2 mutation (tumor-only)sBRCA1sBRCA2tumor BRCAСоматичний патогенний варіант BRCA1/BRCA2 |
| Status | reviewed 2026-04-29 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-CIVIC SRC-NCCN-OVARIAN-2025 SRC-NCCN-PANCREATIC-2025 SRC-NCCN-PROSTATE-2025 SRC-PROFOUND-DEBONO-2020 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss of homologous recombination repair", "gene": "BRCA1, BRCA2", "inheritance": "somatic", "variant_type": "loss-of-function (frameshift, nonsense, splice, large deletions)"} |
| Measurement | MethodTumor NGS (FFPE) — paired germline NGS strongly preferred to distinguish somatic vs germline; tumor-only calls require orthogonal germline testing for confirmation. Unitscategorical: pathogenic | likely_pathogenic | VUS | benign | absent |
| Related biomarkers | BIO-BRCA-GERMLINE BIO-BRCA1-BRCA2-GERMLINE BIO-PALB2-GERMLINE BIO-ATM-CHEK2-CDK12-GERMLINE |
Notes
Distinct entity from BIO-BRCA-GERMLINE: same HRR-deficient phenotype but absent the inherited-cancer-risk implication and (in some labels) reduced PARPi access. Confirmation of somatic vs germline status requires paired germline testing — tumor-only NGS reports a "BRCA" call that may in fact be germline in ~40% of cases (per ASCO/CAP germline-implications guidance).
Used By
Biomarker
BIO-ATM-CHEK2-CDK12-GERMLINE- Germline ATM / CHEK2 / CDK12 pathogenic variant (HRR/DDR composite)BIO-PALB2-GERMLINE- Germline PALB2 pathogenic variant
Red flag
RF-PAN-BRCA-SOMATIC-PARPI-CANDIDATE- Somatic (tumor-only) BRCA1 or BRCA2 pathogenic variant identified on tumor NGS — pan-tumo...