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

被引：19

作者：

Lindor, Noralane M. ^{[1
]}

Yang, Ping ^{[2
]}

Evans, Ilonka ^{[3
]}

Schowalter, Karen ^{[4
]}

De Andrade, Mariza ^{[3
]}

Li, Jia ^{[3
]}

Jeavons, Elysia ^{[3
]}

Peterson, Gloria ^{[2
]}

Gallinger, Steve ^{[5
]}

Bapat, Bharati ^{[5
]}

Hopper, John ^{[6
]}

Jass, Jeremy ^{[7
]}

Jenkins, Mark ^{[6
]}

Templeton, Allyson ^{[8
]}

Potter, John ^{[8
]}

Newcomb, Polly A. ^{[8
]}

LeMarchand, Loic ^{[9
]}

Grove, John ^{[9
]}

Haile, Robert ^{[10
]}

Baron, John ^{[11
]}

Seminara, Daniela ^{[12
]}

Limburg, Paul ^{[13
]}

Thibodeau, Stephen N. ^{[4
]}

机构：

[1] Mayo Clin, Dept Med Genet, Rochester, MN 55905 USA

[2] Mayo Clin, Div Epidemiol, Rochester, MN 55905 USA

[3] Mayo Clin, Dept Hlth Sci Res, Div Biomed Stat & Informat, Rochester, MN 55905 USA

[4] Mayo Clin, Div Lab Genet, Dept Lab Med & Pathol, Rochester, MN 55905 USA

[5] Univ Toronto, Mt Sinai Hosp, Toronto, ON M5G 1X5, Canada

[6] Univ Melbourne, Melbourne, Vic, Australia

[7] St Marks Hosp, Dept Cellular Pathol, Harrow, Middx, England

[8] Fred Hutchinson Canc Res Ctr, Seattle, WA 98104 USA

[9] Univ Hawaii, Canc Res Ctr, Honolulu, HI 96813 USA

[10] Univ So Calif, Human Canc Genet Program, Los Angeles, CA USA

[11] Dartmouth Coll, Hitchcock Med Ctr, Dartmouth Med Sch, Hanover, NH 03756 USA

[12] NCI, Div Canc Control & Populat Sci, Clin & Genet Epidemiol Res Branch, NIH, Bethesda, MD 20892 USA

[13] Mayo Clin, Div Gastroenterol, Rochester, MN 55905 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2010年 / 99卷 / 02期

关键词：

protease inhibitor; microsatellite instability; DNA mismatch repair; smoking; MICROSATELLITE INSTABILITY; EXPRESSION; HMLH1;

D O I：

10.1016/j.ymgme.2009.09.010

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：157 / 159

页数：3

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