Defective Mismatch Repair Associated With MSH3

Stable Identifier
R-HSA-5632927
Type
Pathway
Species
Homo sapiens
Compartment
nucleoplasm
ReviewStatus
5/5
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Defective Mismatch Repair Associated With MSH3
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MSH3 forms a heterodimer with MSH2 to form the MSH3:MSH2 complex, part of the post-replicative DNA mismatch repair system. This complex initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon. Defects in this gene are a cause of susceptibility to endometrial cancer.
Literature References
PubMed ID Title Journal Year
8782829 Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair

Umar, A, Risinger, JI, Kunkel, TA, Berchuck, A, Barrett, JC, Boyd, J

Nat. Genet. 1996
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
Authored
Gillespie, ME  (2011-11-10)
Reviewed
Arora, S  (2016-11-01)
Created
Gillespie, ME  (2014-10-29)
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