AXIN2 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-AXIN2-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | AXIN2 germline патогенний варіант |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | DIS-CRC |
| Sources | SRC-NCCN-GENETIC-FAMILIAL-CRC-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "AXIN2", "gene_hugo_id": "HGNC:904", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
AXIN2 germline — drives familial colorectal cancer with oligodontia (and ectodermal-dysplasia features: sparse hair, nail dysplasia). Wnt-pathway negative regulator; loss → constitutive beta-catenin signaling. Penetrance + spectrum still being defined; reported CRC, breast, gastric. Surveillance under NCCN colonoscopic schedule for high-risk CRC carriers. STUB pending two-Co-Lead signoff.
Used By
Actionability
BMA-AXIN2-GERMLINE-CRC-OLIGODONTIA- AXIN2 germline pathogenic variants cause a Lynch-like attenuated polyposis + oligodontia...