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MSH2 - Gene Detail

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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:
Yes, Lynch syndrome (PMID: 34012068)
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
4436 2 2p21-p16.3 NM_000251 Tumor suppressor (PMID: 30606230)

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