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; 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

doi:10.1016/j.ymgme.2009.09.010

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, 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 BaronDaniela Seminara, Paul Limburg, Stephen N. Thibodeau

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20 Scopus citations

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.

Original language	English (US)
Pages (from-to)	157-159
Number of pages	3
Journal	Molecular genetics and metabolism
Volume	99
Issue number	2
DOIs	https://doi.org/10.1016/j.ymgme.2009.09.010
State	Published - Feb 2010

Keywords

DNA mismatch repair
Microsatellite instability
Protease inhibitor
Smoking

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Biochemistry
Molecular Biology
Genetics
Endocrinology

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10.1016/j.ymgme.2009.09.010

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Lindor, N. M., Yang, P., Evans, I., Schowalter, K., De Andrade, M., Li, J., Jeavons, E., Peterson, G., Gallinger, S., Bapat, B., Hopper, J., Jass, J., Jenkins, M., Templeton, A., Potter, J., Newcomb, P. A., LeMarchand, L., Grove, J., Haile, R., ... Thibodeau, S. N. (2010). Alpha-1-antitrypsin deficiency and smoking as risk factors for mismatch repair deficient colorectal cancer: A study from the colon cancer family registry. Molecular genetics and metabolism, 99(2), 157-159. https://doi.org/10.1016/j.ymgme.2009.09.010

Lindor, NM, Yang, P, Evans, I, Schowalter, K, De Andrade, M, Li, J, Jeavons, E, Peterson, G, Gallinger, S, Bapat, B, Hopper, J, Jass, J, Jenkins, M, Templeton, A, Potter, J, Newcomb, PA, LeMarchand, L, Grove, J, Haile, R, Baron, J, Seminara, D, Limburg, P & Thibodeau, SN 2010, 'Alpha-1-antitrypsin deficiency and smoking as risk factors for mismatch repair deficient colorectal cancer: A study from the colon cancer family registry', Molecular genetics and metabolism, vol. 99, no. 2, pp. 157-159. https://doi.org/10.1016/j.ymgme.2009.09.010

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

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.",

keywords = "DNA mismatch repair, Microsatellite instability, Protease inhibitor, Smoking",

author = "Lindor, {Noralane M.} and Ping Yang and Ilonka Evans and Karen Schowalter and {De Andrade}, Mariza and Jia Li and Elysia Jeavons and Gloria Peterson and Steve Gallinger and Bharati Bapat and John Hopper and Jeremy Jass and Mark Jenkins and Allyson Templeton and John Potter and Newcomb, {Polly A.} and Loic LeMarchand and John Grove and Robert Haile and John Baron and Daniela Seminara and Paul Limburg and Thibodeau, {Stephen N.}",

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doi = "10.1016/j.ymgme.2009.09.010",

language = "English (US)",

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AU - Schowalter, Karen

AU - De Andrade, Mariza

AU - Li, Jia

AU - Jeavons, Elysia

AU - Peterson, Gloria

AU - Gallinger, Steve

AU - Bapat, Bharati

AU - Hopper, John

AU - Jass, Jeremy

AU - Jenkins, Mark

AU - Templeton, Allyson

AU - Potter, John

AU - Newcomb, Polly A.

AU - LeMarchand, Loic

AU - Grove, John

AU - Haile, Robert

AU - Baron, John

AU - Seminara, Daniela

AU - Limburg, Paul

AU - Thibodeau, Stephen N.

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KW - DNA mismatch repair

KW - Microsatellite instability

KW - Protease inhibitor

KW - Smoking

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

Abstract

Keywords

ASJC Scopus subject areas

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