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

Publication Type:

Journal Article


Molecular genetics and metabolism, Volume 99, Issue 2, p.157-9 (2010)


2010, Adult, alpha 1-Antitrypsin Deficiency, Case-Control Studies, Center-Authored Paper, Colonic Neoplasms, DNA Mismatch Repair, Epidemiology Core Facility, FAMILY, Female, Humans, Immunohistochemistry, Male, Middle Aged, Odds Ratio, Public Health Sciences Division, Registries, Risk Factors, Shared Resources, Smoking, Specimen Processing Core Facility


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.