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Prevalence of deleterious ATM germline mutations in gastric cancer patients.


ABSTRACT: 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.

SUBMITTER: Huang DS 

PROVIDER: S-EPMC4747381 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature

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Prevalence of deleterious ATM germline mutations in gastric cancer patients.

Huang Dong-Sheng DS   Tao Hou-Quan HQ   He Xu-Jun XJ   Long Ming M   Yu Sheng S   Xia Ying-Jie YJ   Wei Zhang Z   Xiong Zikai Z   Jones Sian S   He Yiping Y   Yan Hai H   Wang Xiaoyue X  

Oncotarget 20151201 38


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 patie  ...[more]

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