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

作者：Lindor Noralane M^*; Yang Ping; Evans Ilonka; Schowalter Karen; De Andrade Mariza; Li Jia; Jeavons Elysia; Peterson Gloria; Gallinger Steve; Bapat Bharati; Hopper John; Jass Jeremy; Jenkins Mark; Templeton Allyson; Potter John; Newcomb Polly A; LeMarchand Loic; Grove John; Haile Robert; Baron John; Seminara Daniela; Limburg Paul; Thibodeau Stephen N

来源：Molecular Genetics and Metabolism, 2010, 99(2): 157-159.

DOI：10.1016/j.ymgme.2009.09.010

• protease inhibitor
• microsatellite instability
• DNA mismatch repair
• smoking

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.

• 出版日期2010-2
• 单位NIH