MLH1 –93G>A Promoter Polymorphism and the Risk of Microsatellite-Unstable Colorectal Cancer

• Published in: JNCI : Journal of the National Cancer Institute Vol. 99; no. 6; pp. 463 - 474
• Main Authors: Raptis, Stavroula, Mrkonjic, Miralem, Green, Roger C., Pethe, Vaijayanti V., Monga, Neerav, Chan, Yuen Man, Daftary, Darshana, Dicks, Elizabeth, Younghusband, Banfield H., Parfrey, Patrick S., Gallinger, Steven S., McLaughlin, John R., Knight, Julia A., Bapat, Bharati
• Format: Journal Article
• Language: English
• Published: Cary, NC Oxford University Press 21.03.2007; Oxford Publishing Limited (England)
• Subjects: Adaptor Proteins, Signal Transducing; Adenosine; Biological and medical sciences; Carrier Proteins - genetics; Case-Control Studies; Colorectal cancer; Colorectal Neoplasms - genetics; Colorectal Neoplasms, Hereditary Nonpolyposis - genetics; DNA Repair; Female; Gastroenterology. Liver. Pancreas. Abdomen; Gene Frequency; Genes; Genotype; Genotype & phenotype; Guanine; Humans; Male; Medical sciences; Microsatellite Instability; Middle Aged; MutL Protein Homolog 1; MutS Homolog 2 Protein - genetics; Newfoundland and Labrador; Nuclear Proteins - genetics; Odds Ratio; Ontario; Polymerase Chain Reaction; Polymorphism; Polymorphism, Genetic; Polymorphism, Single Nucleotide; Promoter Regions, Genetic; Research Design; Risk Assessment; Risk Factors; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus; Surveys and Questionnaires; Tumors; Canada; North America; America; Netherlands, Noord-Holland, Amsterdam; Canada, Newfoundland and Labrador, Newfoundland; Human; Rectal disease; Genetic variability; Transcription promoter; Colorectal cancer; Genotype; Malignant tumor; Epidemiology; Repair gene; Colonic disease; Cancerology; Microsatellite DNA; Risk factor; Digestive diseases; Genetics; Intestinal disease; Instability; Public health; Polymorphism

Background Although up to 30% of patients with colorectal cancer have a positive family history of colorectal neoplasia, few colorectal cancers can be explained by mutations in high-penetrance genes. We investigated whether polymorphisms in DNA mismatch repair genes are associated with the risk of c...