BRIP1 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-BRIP1-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | BRIP1 germline патогенний варіант |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025 SRC-NCCN-OVARIAN-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "BRIP1", "gene_hugo_id": "HGNC:20473", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
BRIP1 germline (also FANCJ) — ovarian cancer lifetime risk ~5-10% (NCCN: discuss risk-reducing salpingo-oophorectomy age 45-50). Breast risk uncertain, generally not elevated above background. Biallelic LOF causes Fanconi anemia complementation group J. STUB pending two-Co-Lead signoff.
Used By
No reverse references found in the YAML corpus.