Alpha-1-antitrypsin deficiency and smoking as risk factors for mismatch repair deficient colorectal cancer: A study from the colon cancer family registry

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• 作者：Noralane M. Lindor ; Ping Yang ; Ilonka Evans ; Karen Schowalter ; Mariza De Andrade ; Jia Li ; Elysia Jeavons ; Gloria Peterson ; Steve Gallinger ; Bharati Bapat ; John Hopper ; Jeremy Jass ; Mark Jenkins ; Allys
• 关键词：Protease inhibitor ; Microsatellite instability ; DNA mismatch repair ; Smoking
• 刊名：Molecular Genetics and Metabolism
• 出版年：2010
• 出版时间：February 2010
• 年：2010
• 卷：99
• 期：2
• 页码：157-159
• 全文大小：134 K

文摘

In a previous study, alpha-1-antitrypsin (A1AT) deficiency alleles were found to be over represented among individuals with microsatellite unstable (MSI-high) colorectal cancers, and this was most significant in former or current smokers. We evaluated this association in a larger case–control study, stratified by microsatellite instability phenotypes. Concordant with prior observations, gender (female) and smoking history were positively associated with colorectal cancers having an MSI-high phenotype. No difference in frequency of A1AT deficiency alleles was found between cases and controls, irrespective of the MSI subtype.