Article
MLH1 -93G>A promoter polymorphism and risk of mismatch repair deficient colorectal cancer.
International journal of cancer - 15 Nov 2008
Allan James M, Shorto Jennifer, Adlard Julian, Bury Jonathan, Coggins Ron, George Rina, Katory Mark, Quirke Philip, Richman Susan, Scott Daniel, Scott Kathryn, Seymour Matthew, Travis Lois B, Worrillow Lisa J, Bishop D Timothy, Cox Angela
Abstract excerpt
Rare inherited mutations in the mutL homolog 1 (MLH1) DNA mismatch repair gene can confer an increased susceptibility to colorectal cancer (CRC) with high penetrance where disease frequently develops in the proximal colon. The core promoter of MLH1 contains a common single nucleotide polymorphism (SNP) (-93G>A, dbSNP ID:rs1800734) located in a region essential for maximum transcriptional activity. We used...
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