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Genetic variants in DNA repair pathway genes and risk of esophageal squamous cell carcinoma and gastric adenocarcinoma

Thursday, October 11, 2012 — Poster Session III

10:00 a.m. – Noon

Natcher Conference Center, Building 45




  • W. Li
  • N. Hu
  • Z. Wang
  • K. Yu
  • P.L. Hyland
  • Y. Gao
  • J.X. Shi
  • S.J. Chanock
  • L. Burdette
  • T. Ding
  • Y. Qiao
  • J. Fan
  • W. Wheeler
  • X. Xiong
  • M.A. Tucker
  • S.M. Dawsey
  • N.D. Freedman
  • C.C. Abnet
  • A.M. Goldstein
  • P.R. Taylor


Esophageal cancer and gastric cancer are the leading causes of cancer-related death. DNA repair pathway maintains genomic integrity and could therefore correlate with the propensity to develop cancer. We aimed to investigate the associations between DNA repair pathway genes and risk of esophageal squamous cell carcinoma (ESCC) and gastric cancer from a genome-wide association study on two high-risk populations in north central China. Totally 1,942 ESCC cases, 1,758 gastric cancer cases, and 2,111 controls were genotyped for 1,668 SNPs in 170 DNA repair-related genes. Logistic regression model was applied to evaluate the SNP-level association. Gene and pathway-level association were determined by using permutation-based adaptive rank truncated product approach adjusting for multiple comparisons. DNA repair pathway was significantly associated with risk of ESCC overall (P=3.50×10-3), but not with gastric cancer (P=0.21). The most significant individual gene was CHEK2 in ESCC (P=5.00×10-5), and CLK2 in gastric cancer (P=2.50×10-4). Moreover, there are ten other genes associated with risk of ESCC and four genes associated with gastric cancer (P<0.05). We provide evidence on the association between genes in DNA repair pathway and the risk of ESCC or gastric cancer. Further studies are warranted to validate the associations and to investigate the potential mechanisms.

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