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Defective Mismatch Repair Associated With MLH1
Stable Identifier
R-HSA-5545483
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 MLH1 (Homo sapiens)
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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
Events
MLH1 variants-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
Authored
Gillespie, ME (2011-11-10)
Reviewed
Arora, S (2016-11-01)
Created
Gillespie, ME (2014-05-21)
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