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

Research output: Contribution to journalArticle

20 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)157-159
Number of pages3
JournalMolecular Genetics and Metabolism
Volume99
Issue number2
DOIs
StatePublished - Feb 2010

Fingerprint

alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin
DNA Mismatch Repair
Colonic Neoplasms
Registries
Colorectal Neoplasms
Repair
Smoking
Microsatellite Repeats
Alleles
Phenotype
Microsatellite Instability
Case-Control Studies
History
N-methylsuccinimide
Autosomal Recessive alpha-1-Antitrypsin Deficiency

Keywords

  • DNA mismatch repair
  • Microsatellite instability
  • Protease inhibitor
  • Smoking

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

Cite this

Alpha-1-antitrypsin deficiency and smoking as risk factors for mismatch repair deficient colorectal cancer : A study from the colon cancer family registry. / Lindor, Noralane M.; Yang, Ping; Evans, Ilonka; Schowalter, Karen; De Andrade, Mariza; Li, Jia; Jeavons, Elysia; Peterson, Gloria; Gallinger, Steve; Bapat, Bharati; Hopper, John; Jass, Jeremy; Jenkins, Mark; Templeton, Allyson; Potter, John; Newcomb, Polly A.; LeMarchand, Loic; Grove, John; Haile, Robert; Baron, John; Seminara, Daniela; Limburg, Paul; Thibodeau, Stephen N.

In: Molecular Genetics and Metabolism, Vol. 99, No. 2, 02.2010, p. 157-159.

Research output: Contribution to journalArticle

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
Lindor, Noralane M. ; Yang, Ping ; Evans, Ilonka ; Schowalter, Karen ; De Andrade, Mariza ; Li, Jia ; Jeavons, Elysia ; Peterson, Gloria ; Gallinger, Steve ; Bapat, Bharati ; Hopper, John ; Jass, Jeremy ; Jenkins, Mark ; Templeton, Allyson ; Potter, John ; Newcomb, Polly A. ; LeMarchand, Loic ; Grove, John ; Haile, Robert ; Baron, John ; Seminara, Daniela ; Limburg, Paul ; Thibodeau, Stephen N. / Alpha-1-antitrypsin deficiency and smoking as risk factors for mismatch repair deficient colorectal cancer : A study from the colon cancer family registry. In: Molecular Genetics and Metabolism. 2010 ; Vol. 99, No. 2. pp. 157-159.
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