胃癌患者中有害的共济失调毛细血管扩张突变基因（ATM）种系突变的患病率。
Prevalence of deleterious ATM germline mutations in gastric cancer patients.
作者信息
Huang Dong-Sheng, Tao Hou-Quan, He Xu-Jun, Long Ming, Yu Sheng, Xia Ying-Jie, Wei Zhang, Xiong Zikai, Jones Sian, He Yiping, Yan Hai, Wang Xiaoyue
机构信息
Department of Surgery, Zhejiang Provincial People's Hospital, Hangzhou, Zhejiang, China.
Key Laboratory of Gastroenterology of Zhejiang Province, Hangzhou, Zhejiang, China.
出版信息
Oncotarget. 2015 Dec 1;6(38):40953-8. doi: 10.18632/oncotarget.5944.
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.
除了CDH1之外，此前鲜有遗传性胃癌易感基因的报道。在本研究中，我们通过筛查83个癌症易感基因，在中国一个有胃癌病史的家族中发现了两个种系ATM突变（p.Y1203fs和p.N1223S）。利用已发表的外显子组测序数据集，我们在335名不同种族的胃癌患者中发现2.7%存在有害的种系ATM突变。胃癌患者中有害ATM突变的频率显著高于普通人群（p = 0.0000435），提示ATM突变与胃癌易感性相关。我们还在两名胃癌患者的肿瘤中观察到ATM的双等位基因失活。对遗传性胃癌中ATM突变的进一步评估将有助于基因检测和风险评估。
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