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Gene Symbol | MSH2 | ||||||||||
Synonyms | COCA1 | FCC1 | hMSH2 | HNPCC | HNPCC1 | LCFS2 | LYNCH1 | MMRCS2 | MSH-2 | ||||||||||
Gene Description | MSH2, mutS homolog 2, is a tumor suppressor (PMID: 30562755) that functions as part of the DNA mismatch repair system (PMID: 9024626, PMID: 18157157) and is associated with microsatellite instability (MSI) (PMID: 30121009) and genomic stability (PMID: 31747945). Mutations in MSH2 are associated with susceptibility to colon cancer and endometrial cancer (PMID: 23255516), and germline MSH2 mutations are associated with Lynch (Hereditary Nonpolyposis Colorectal Cancer) syndrome (HNPCC1) (PMID: 15528792). | ||||||||||
ACMG Incidental List v3.0: |
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Variant | Impact | Protein Effect | Variant Description | Associated With Drug Resistance |
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Variant | Impact | Protein Effect | Variant Description | Associated With Drug Resistance |
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Molecular Profile | Protein Effect | Treatment Approaches |
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Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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