MUTYH germline pathogenic variant (biallelic for MAP)
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-MUTYH-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | MUTYH germline pathogenic variantMUTYH germline патогенний варіант (biallelic для MAP) |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-ESMO-CRC-2024 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "MUTYH", "gene_hugo_id": "HGNC:7527", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
MUTYH germline — biallelic variants drive MUTYH-Associated Polyposis (MAP), autosomal recessive. Attenuated FAP-like phenotype. Monoallelic carriers have modest CRC risk elevation. Common founder variants: Y179C, G396D. STUB.
Used By
No reverse references found in the YAML corpus.