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msh2
MSH2
MSH2 (MutS Homolog 2) forms MutSα (MSH2-MSH6) and MutSβ (MSH2-MSH3) heterodimers for mismatch repair; germline MSH2 mutations cause Lynch syndrome (~31%); MMR LOF → MSI-H → elevated TMB → immunotherapy sensitivity; EPCAM deletions silence MSH2 epigenetically.
Entry Metadata
| Field | Value |
|---|---|
| ID | msh2 |
| Name | MSH2 |
| Status | draft |
| Last reviewed | 2026-06-07 |
| Atlas | 01-human |
| Scale | 03-molecular |
Cross-Atlas Connections
Sources
- Bonadona V, Bonaïti B, Olschwang S, et al. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA. 2011;305(22):2304-2310. · PubMed 21642683
- Lynch HT, Snyder CL, Shaw TG, et al. Milestones of Lynch syndrome: 1895-2015. Nat Rev Cancer. 2015;15(3):181-194. · PubMed 25673086