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. 2010 Feb;99(2):157-9.
doi: 10.1016/j.ymgme.2009.09.010. Epub 2009 Sep 27.

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

Noralane M Lindor  1 , 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, Allyson Templeton, John Potter, Polly A Newcomb, Loic Lemarchand, John Grove, Robert Haile, John Baron, Daniela Seminara, Paul Limburg, Stephen N Thibodeau
Affiliations

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

Noralane M Lindor et al. Mol Genet Metab. 2010 Feb.

Abstract

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.

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