CDKN2A 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-CDKN2A-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | CDKN2A germline патогенний варіант |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-NCCN-MELANOMA-2025 SRC-NCCN-PANCREATIC-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "CDKN2A", "gene_hugo_id": "HGNC:1787", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
CDKN2A germline — drives Familial Atypical Multiple Mole Melanoma syndrome (FAMMM). Cutaneous melanoma lifetime risk ~50-70%; pancreatic ductal adenocarcinoma ~15-20%. Encodes p16INK4a + p14ARF; both isoforms may be affected. NCCN: annual dermatologic exam + pancreatic surveillance (MRI/EUS) per CAPS consortium. STUB pending two-Co-Lead signoff.
Used By
No reverse references found in the YAML corpus.