Prevalence of deleterious ATM germline mutations in gastric cancer patients

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 s...

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Main Authors:	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
Format:	Online
Language:	English
Published:	Impact Journals LLC 2015
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747381/

id	pubmed-4747381
recordtype	oai_dc
spelling	pubmed-47473812016-03-24 Prevalence of deleterious ATM germline mutations in gastric cancer patients 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 Research Paper 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. Impact Journals LLC 2015-10-23 /pmc/articles/PMC4747381/ /pubmed/26506520 Text en Copyright: © 2015 Huang et al. http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	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
spellingShingle	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 Prevalence of deleterious ATM germline mutations in gastric cancer patients
author_facet	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
author_sort	Huang, Dong-Sheng
title	Prevalence of deleterious ATM germline mutations in gastric cancer patients
title_short	Prevalence of deleterious ATM germline mutations in gastric cancer patients
title_full	Prevalence of deleterious ATM germline mutations in gastric cancer patients
title_fullStr	Prevalence of deleterious ATM germline mutations in gastric cancer patients
title_full_unstemmed	Prevalence of deleterious ATM germline mutations in gastric cancer patients
title_sort	prevalence of deleterious atm germline mutations in gastric cancer patients
description	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.
publisher	Impact Journals LLC
publishDate	2015
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747381/
_version_	1613536213080211456

Prevalence of deleterious ATM germline mutations in gastric cancer patients

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