Defective Mismatch Repair Associated With MSH6

Stable Identifier
R-HSA-5632968
Type
Pathway
Species
Homo sapiens
Compartment
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MSH6 encodes a G/T mismatch-binding protein encoded by a gene localized to within 1 megabase of the related hMSH2 gene on chromosome 2. Unlike other mismatch repair genes, the MSH6 deficient cells showed alterations primarily in mononucleotide tracts, indicating the role MSH6 plays in maintaining the integrity of the human genome. Cells deficient in MSH6, accrue mutations in tracts of repeated nucleotides. MSH6 defects seem to be less common than MLH1 and MSH2 defects. They have been mostly observed in atypical HNPCC families and are characterized by a weaker family history of tumor development, higher age at disease onset, and low degrees of microsatellite instability (MSI) that predominantly involving mononucleotide runs.

Literature References
PubMed ID Title Journal Year
12419761 Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer: a HuGE review

Mitchell, RJ, Farrington, SM, Dunlop, MG, Campbell, H

Am. J. Epidemiol. 2002
Participants
Participant Of
Disease
Name Identifier Synonyms
cancer 162 malignant tumor, malignant neoplasm, primary cancer
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