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.
Department of Medical Genetics, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. nlindor@mayo.edu
Noralane M
NM
Lindor
Ping
P
Yang
Ilonka
I
Evans
Karen
K
Schowalter
Mariza
M
De Andrade
Jia
J
Li
Elysia
E
Jeavons
Gloria
G
Peterson
Steve
S
Gallinger
Bharati
B
Bapat
John
J
Hopper
Jeremy
J
Jass
Mark
M
Jenkins
Allyson
A
Templeton
John
J
Potter
Polly A
PA
Newcomb
Loic
L
Lemarchand
John
J
Grove
Robert
R
Haile
John
J
Baron
Daniela
D
Seminara
Paul
P
Limburg
Stephen N
SN
Thibodeau
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