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Defective Mismatch Repair Associated With MSH6
Stable Identifier
R-HSA-5632968
Type
Pathway
Species
Homo sapiens
Compartment
nucleoplasm
ReviewStatus
5/5
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Disease (Homo sapiens)
Diseases of DNA repair (Homo sapiens)
Diseases of Mismatch Repair (MMR) (Homo sapiens)
Defective Mismatch Repair Associated With MSH6 (Homo sapiens)
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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
Dunlop, MG
,
Farrington, SM
,
Mitchell, RJ
,
Campbell, H
Am. J. Epidemiol.
2002
Participants
Events
MSH6 variant:MSH2-defective DNA mismatch repair
(Homo sapiens)
Participates
as an event of
Diseases of Mismatch Repair (MMR) (Homo sapiens)
Disease
Name
Identifier
Synonyms
cancer
DOID:162
malignant tumor, malignant neoplasm, primary cancer
Cross References
BioModels Database
BIOMD0000000467
Authored
Gillespie, ME (2011-11-10)
Reviewed
Arora, S (2016-11-01)
Created
Gillespie, ME (2014-10-29)
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