APC 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-APC-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | APC germline патогенний варіант |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-NCCN-GENETIC-FAMILIAL-CRC-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "APC", "gene_hugo_id": "HGNC:583", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
APC germline — drives Familial Adenomatous Polyposis (FAP) and attenuated FAP (AFAP). Near-100% CRC penetrance untreated; classic FAP presents with 100s-1000s of adenomatous polyps adolescence-30s. Prophylactic colectomy is standard. Extracolonic: duodenal/ampullary, desmoid, thyroid, hepatoblastoma (children), CHRPE. STUB pending two-Co-Lead signoff.
Used By
No reverse references found in the YAML corpus.