Article
Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer.
PloS one - 13 Oct 2010
Mrkonjic Miralem, Roslin Nicole M, Greenwood Celia M, Raptis Stavroula, Pollett Aaron, Laird Peter W, Pethe Vaijayanti V, Chiang Theodore, Daftary Darshana, Dicks Elizabeth, Thibodeau Stephen N, Gallinger Steven, Parfrey Patrick S, Younghusband H Banfield, Potter John D, Hudson Thomas J, McLaughlin John R, Green Roger C, Zanke Brent W, Newcomb Polly A, Paterson Andrew D, Bapat Bharati
Abstract excerpt
BACKGROUND: We previously identified an association between a mismatch repair gene, MLH1, promoter SNP (rs1800734) and microsatellite unstable (MSI-H) colorectal cancers (CRCs) in two samples. The current study expanded on this finding as we explored the genetic basis of DNA methylation in this region of chromosome 3. We hypothesized that specific polymorphisms in the MLH1 gene region predispose it to DNA...
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