Prevalence of deleterious ATM germline mutations in gastric cancer patients.

Journal Article (Journal Article)

Besides CDH1, few hereditary gastric cancer predisposition genes have been previously reported. In this study, we discovered two germline ATM mutations (p.Y1203fs and p.N1223S) in a Chinese family with a history of gastric cancer by screening 83 cancer susceptibility genes. Using a published exome sequencing dataset, we found deleterious germline mutations of ATM in 2.7% of 335 gastric cancer patients of different ethnic origins. The frequency of deleterious ATM mutations in gastric cancer patients is significantly higher than that in general population (p=0.0000435), suggesting an association of ATM mutations with gastric cancer predisposition. We also observed biallelic inactivation of ATM in tumors of two gastric cancer patients. Further evaluation of ATM mutations in hereditary gastric cancer will facilitate genetic testing and risk assessment.

Full Text

Duke Authors

Cited Authors

  • Huang, D-S; Tao, H-Q; He, X-J; Long, M; Yu, S; Xia, Y-J; Wei, Z; Xiong, Z; Jones, S; He, Y; Yan, H; Wang, X

Published Date

  • December 1, 2015

Published In

Volume / Issue

  • 6 / 38

Start / End Page

  • 40953 - 40958

PubMed ID

  • 26506520

Pubmed Central ID

  • PMC4747381

Electronic International Standard Serial Number (EISSN)

  • 1949-2553

Digital Object Identifier (DOI)

  • 10.18632/oncotarget.5944


  • eng

Conference Location

  • United States