Defective Mismatch Repair Associated With MLH1

Stable Identifier
R-HSA-5545483
Type
Pathway
Species
Homo sapiens
Compartment
ReviewStatus
5/5
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The MLH1:PMS2 complex is homologous to the E. coli MutL gene and is involved in DNA mismatch repair. Heterozygous mutations in the MLH1 gene result in hereditary nonpolyposis colorectal cancer-2 (Papadopoulos et al., 1994).
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
Participates
Disease
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
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