RAD51C 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-RAD51C-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | RAD51C 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": "RAD51C", "gene_hugo_id": "HGNC:9820", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
RAD51C germline — HRR-pathway gene; ovarian cancer lifetime risk ~10-15% (NCCN includes for risk-reducing salpingo-oophorectomy discussion age 45-50); breast cancer (esp. triple-negative) ~15-20%. Biallelic LOF causes Fanconi anemia complementation group O. PARPi consideration in HRR-context tumors. STUB pending two-Co-Lead signoff.
Used By
No reverse references found in the YAML corpus.