MSH2 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-MSH2-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | MSH2 germline патогенний варіант |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-ASCO-ACMG-LYNCH-2014 SRC-ESMO-CRC-2024 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "MSH2", "gene_hugo_id": "HGNC:7325", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
MSH2 germline drives Lynch syndrome. High penetrance similar to MLH1: lifetime CRC ~70-80%, endometrial ~40-60% in women, urothelial elevated. STUB.
Used By
Biomarker
BIO-LYNCH-PANEL-SPLIT- Lynch syndrome germline panel — gene-resolved (MLH1 / MSH2 / MSH6 / PMS2 / EPCAM)