MSH6 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-MSH6-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | MSH6 germline патогенний варіант |
| 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": "MSH6", "gene_hugo_id": "HGNC:7329", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
MSH6 germline — lower-penetrance Lynch gene. CRC ~25-50%, endometrial ~17-44% in women — later age of onset than MLH1/MSH2 carriers. STUB.
Used By
No reverse references found in the YAML corpus.