Article
A single nucleotide substitution (-107C-->G) in the hMLH1 promoter found in colorectal cancer population reduces transcriptional activity.
Biochemical genetics - 1 Oct 2007
Zhong Xiaoling, Arita Michitsune, Yamada Kanae, Sugiyama Hisahiko, Tan Ke, Kanazawa Shinsaku, Koike Junichi, Teramoto Tatsuo, Hemmi Hiromichi
Abstract excerpt
Inactivation of the DNA mismatch repair gene hMLH1 predisposes one to colorectal cancer. We have identified a C to G nucleotide substitution at position -107 relative to the hMLH1 gene translation initiation site in three of 163 colorectal cancer patients with an allele frequency of 0.0092 (3/326). One of the three -107G alleles occurred in one patient out of five with reduced hMLH1 expression in the tumor...
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