期刊
INTERNATIONAL JOURNAL OF CANCER
卷 123, 期 10, 页码 2456-2459出版社
WILEY-LISS
DOI: 10.1002/ijc.23770
关键词
MLH1; mismatch repair; colorectal; polymorphism; proximal; promoter; dna repairs; cancer
类别
资金
- White Rose PhD studentship
- Yorkshire Cancer Research
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 logistic regression analysis to examine the association between this variant and risk of CRC in patients in the United Kingdom. All statistical tests were 2 sided. In an analysis of 1,518 patients with CRC, homozygosity for the MLH1 -93A variant was associated with a significantly increased 3-fold risk of CRC negative for MLH1 protein by immunohistochemistry (odds ratio (OR): AA vs GG = 3.30, 951 v CI 1.46-7.47, n = 1392, p = 0.004, MLH1 negative vs MLH1 positive CRC) and with a 68% excess of proximal CRC (OR: AA vs GG=1.68, 95% confidence interval (CI) 1.00-2.83, n = 1,518. p = 0.05, proximal vs distal CRC). These findings suggest that the MLHI -93G > A polymorphism defines a low penetrance risk allele for CRC. (C) 2008 Wiley-Liss, Inc.
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