Alpha-1-antitrypsin deficiency and smoking as risk factors for mismatch repair deficient colorectal cancer: a study from the colon cancer family registry.
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.
Lindor
Noralane M
NM
Department of Medical Genetics, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. nlindor@mayo.edu
Yang
Ping
P
Evans
Ilonka
I
Schowalter
Karen
K
De Andrade
Mariza
M
Li
Jia
J
Jeavons
Elysia
E
Peterson
Gloria
G
Gallinger
Steve
S
Bapat
Bharati
B
Hopper
John
J
Jass
Jeremy
J
Jenkins
Mark
M
Templeton
Allyson
A
Potter
John
J
Newcomb
Polly A
PA
Lemarchand
Loic
L
Grove
John
J
Haile
Robert
R
Baron
John
J
Seminara
Daniela
D
Limburg
Paul
P
Thibodeau
Stephen N
SN
D000328:Adult; D016022:Case-Control Studies; D003110:Colonic Neoplasms / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D053843:DNA Mismatch Repair; D005190:Family; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D012042:Registries; D012307:Risk Factors; D012907:Smoking / Q000009:adverse effects*; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications* / Q000473:pathology