Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer.
作者： Timothy R Porter , Frances M Richards , Richard S Houlston , D Gareth R Evans , Janusz A Jankowski
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摘要: The molecular basis for most non-HNPCC familial colorectal cancer cases is unknown, but there increasing evidence that common genetic variants may play a role. We investigated the contribution of polymorphisms in two genes implicated pathogenesis cancer, cyclin D1 (CCND1) and E-cadherin (CDH1), to sporadic forms disease. CCND1 870A/G polymorphism thought affect expression through mRNA splicing has been reported modify penetrance HNPCC. Inactivation truncating germline mutations have confer susceptibility as well diffuse gastric cancer. −160A/C CDH1 appears therefore also an increased risk. found significantly higher frequency 870A allele 206 compared 171 controls (P=0.03). Odds ratios heterozygotes homozygotes were 1.7 (95% CI: 1.0–2.66) 1.8 1.0–3.3) respectively. difference was accounted by over-representation A (P=0.007). Over-representation seen this did not attain statistical significance (P=0.08). No significant differences between genotypes familial, seen, although possible association low expressing right-sided tumours detected cases.
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