Defective Mismatch Repair Associated With MSH2

Stable Identifier
R-HSA-5632928
Type
Pathway
Species
Homo sapiens
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MSH2 is homologous to the E. coli MutS gene and is involved in DNA mismatch repair (MMR) (Fishel et al., 1994). Heterozygous mutations in the MSH2 gene result in hereditary nonpolyposis colorectal cancer-1. Variants of MSH2 are associated with hereditary nonpolyposis colorectal cancer. Alteration of MSH2 is also involved in Muir-Torre syndrome and mismatch repair cancer syndrome.

Literature References
PubMed ID Title Journal Year
8252616 The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer

Fishel, R, Lescoe, MK, Rao, MR, Copeland, NG, Jenkins, NA, Garber, J, Kane, M, Kolodner, R

Cell 1993
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
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Disease
Name Identifier Synonyms
cancer 162 malignant tumor, malignant neoplasm, primary cancer
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