Defective Mismatch Repair Associated With MSH3

Stable Identifier
R-HSA-5632927
Type
Pathway
Species
Homo sapiens
Compartment
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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

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

Nat. Genet. 1996
Participants
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Disease
Name Identifier Synonyms
cancer 162 malignant tumor, malignant neoplasm, primary cancer
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