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Prevalence of deleterious ATM germline mutations in gastric cancer patients.

Publication ,  Journal Article
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 in: Oncotarget
December 1, 2015

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.

Duke Scholars

Published In

Oncotarget

DOI

EISSN

1949-2553

Publication Date

December 1, 2015

Volume

6

Issue

38

Start / End Page

40953 / 40958

Location

United States

Related Subject Headings

  • Stomach Neoplasms
  • Sequence Analysis, DNA
  • Pedigree
  • Molecular Sequence Data
  • Middle Aged
  • Male
  • Loss of Heterozygosity
  • Humans
  • Germ-Line Mutation
  • Genetic Predisposition to Disease
 

Citation

APA
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ICMJE
MLA
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Huang, D.-S., Tao, H.-Q., He, X.-J., Long, M., Yu, S., Xia, Y.-J., … Wang, X. (2015). Prevalence of deleterious ATM germline mutations in gastric cancer patients. Oncotarget, 6(38), 40953–40958. https://doi.org/10.18632/oncotarget.5944
Huang, Dong-Sheng, Hou-Quan Tao, Xu-Jun He, Ming Long, Sheng Yu, Ying-Jie Xia, Zhang Wei, et al. “Prevalence of deleterious ATM germline mutations in gastric cancer patients.Oncotarget 6, no. 38 (December 1, 2015): 40953–58. https://doi.org/10.18632/oncotarget.5944.
Huang D-S, Tao H-Q, He X-J, Long M, Yu S, Xia Y-J, et al. Prevalence of deleterious ATM germline mutations in gastric cancer patients. Oncotarget. 2015 Dec 1;6(38):40953–8.
Huang, Dong-Sheng, et al. “Prevalence of deleterious ATM germline mutations in gastric cancer patients.Oncotarget, vol. 6, no. 38, Dec. 2015, pp. 40953–58. Pubmed, doi:10.18632/oncotarget.5944.
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. Prevalence of deleterious ATM germline mutations in gastric cancer patients. Oncotarget. 2015 Dec 1;6(38):40953–40958.

Published In

Oncotarget

DOI

EISSN

1949-2553

Publication Date

December 1, 2015

Volume

6

Issue

38

Start / End Page

40953 / 40958

Location

United States

Related Subject Headings

  • Stomach Neoplasms
  • Sequence Analysis, DNA
  • Pedigree
  • Molecular Sequence Data
  • Middle Aged
  • Male
  • Loss of Heterozygosity
  • Humans
  • Germ-Line Mutation
  • Genetic Predisposition to Disease