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Frequent KIT mutations in human gastrointestinal stromal tumors.

Identifying gene mutations in individual tumors is critical to improve the efficacy of cancer therapy by matching targeted drugs to specific mutations. Gastrointestinal stromal tumors (GIST) are stromal or mesenchymal subepithelial neoplasms affecting the gastrointestinal tract and frequently contai... Full description

Journal Title: Scientific reports August 1, 2014, Vol.4, p.5907
Main Author: Xu, Zhi
Other Authors: Huo, Xinying , Tang, Chuanning , Ye, Hua , Nandakumar, Vijayalakshmi , Lou, Feng , Zhang, Dandan , Jiang, Shouwen , Sun, Hong , Dong, Haichao , Zhang, Guangchun , Liu, Zhiyuan , Dong, Zhishou , Guo, Baishuai , Yan, He , Yan, Chaowei , Wang, Lu , Su, Ziyi , Li, Yangyang , Gu, Dongying , Zhang, Xiaojing , Wu, Xiaomin , Wei, Xiaowei , Hong, Lingzhi , Zhang, Yangmei , Yang, Jinsong , Gong, Yonglin , Tang, Cuiju , Jones, Lindsey , Huang, Xue F , Chen, Si-Yi , Chen, Jinfei
Format: Electronic Article Electronic Article
Language: English
Subjects:
ID: E-ISSN: 2045-2322 ; DOI: 2045-2322 ; DOI: 10.1038/srep05907
Link: http://search.proquest.com/docview/1551023478/?pq-origsite=primo
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title: Frequent KIT mutations in human gastrointestinal stromal tumors.
format: Article
creator:
  • Xu, Zhi
  • Huo, Xinying
  • Tang, Chuanning
  • Ye, Hua
  • Nandakumar, Vijayalakshmi
  • Lou, Feng
  • Zhang, Dandan
  • Jiang, Shouwen
  • Sun, Hong
  • Dong, Haichao
  • Zhang, Guangchun
  • Liu, Zhiyuan
  • Dong, Zhishou
  • Guo, Baishuai
  • Yan, He
  • Yan, Chaowei
  • Wang, Lu
  • Su, Ziyi
  • Li, Yangyang
  • Gu, Dongying
  • Zhang, Xiaojing
  • Wu, Xiaomin
  • Wei, Xiaowei
  • Hong, Lingzhi
  • Zhang, Yangmei
  • Yang, Jinsong
  • Gong, Yonglin
  • Tang, Cuiju
  • Jones, Lindsey
  • Huang, Xue F
  • Chen, Si-Yi
  • Chen, Jinfei
subjects:
  • Antigens, Cd34–Metabolism
  • DNA Mutational Analysis–Genetics
  • Female–Metabolism
  • Gastrointestinal Neoplasms–Mortality
  • Gastrointestinal Stromal Tumors–Genetics
  • Gene Frequency–Metabolism
  • Genetic Association Studies–Mortality
  • Genetic Predisposition to Disease–Genetics
  • Humans–Genetics
  • Kaplan-Meier Estimate–Genetics
  • Male–Genetics
  • Mutation, Missense–Genetics
  • Polymorphism, Single Nucleotide–Genetics
  • Proto-Oncogene Proteins C-Kit–Genetics
  • Antigens, Cd34
  • Proto-Oncogene Proteins C-Kit
ispartof: Scientific reports, August 1, 2014, Vol.4, p.5907
description: Identifying gene mutations in individual tumors is critical to improve the efficacy of cancer therapy by matching targeted drugs to specific mutations. Gastrointestinal stromal tumors (GIST) are stromal or mesenchymal subepithelial neoplasms affecting the gastrointestinal tract and frequently contain activating gene mutations in either KIT or platelet-derived growth factor A (PDGFRA). Although GIST is highly responsive to several selective tyrosine kinase inhibitors, combined use of inhibitors targeting other mutations is needed to further prolong survival in patients with GIST. In this study, we aim to screen and identify genetic mutations in GIST for targeted therapy using the new Ion Torrent next-generation sequencing platform. Utilizing the Ion Ampliseq Cancer Panel, we sequenced 737 loci from 45 cancer-related genes using DNA extracted from formalin-fixed and paraffin-embedded (FFPE) samples of 121 human gastrointestinal stromal tumors, set up stringent parameters for reliable variant calling by filtering out potential raw base calling errors, and identified frequent mutations in the KIT gene. This study demonstrates the utility of using Ion Torrent sequencing to efficiently identify human cancer mutations. This may provide a molecular basis for clinically developing new drugs targeting these gene mutations for GIST therapy.
language: eng
source:
identifier: E-ISSN: 2045-2322 ; DOI: 2045-2322 ; DOI: 10.1038/srep05907
fulltext: fulltext
issn:
  • 20452322
  • 2045-2322
url: Link


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titleFrequent KIT mutations in human gastrointestinal stromal tumors.
creatorXu, Zhi ; Huo, Xinying ; Tang, Chuanning ; Ye, Hua ; Nandakumar, Vijayalakshmi ; Lou, Feng ; Zhang, Dandan ; Jiang, Shouwen ; Sun, Hong ; Dong, Haichao ; Zhang, Guangchun ; Liu, Zhiyuan ; Dong, Zhishou ; Guo, Baishuai ; Yan, He ; Yan, Chaowei ; Wang, Lu ; Su, Ziyi ; Li, Yangyang ; Gu, Dongying ; Zhang, Xiaojing ; Wu, Xiaomin ; Wei, Xiaowei ; Hong, Lingzhi ; Zhang, Yangmei ; Yang, Jinsong ; Gong, Yonglin ; Tang, Cuiju ; Jones, Lindsey ; Huang, Xue F ; Chen, Si-Yi ; Chen, Jinfei
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ispartofScientific reports, August 1, 2014, Vol.4, p.5907
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subjectAntigens, Cd34–Metabolism ; DNA Mutational Analysis–Genetics ; Female–Metabolism ; Gastrointestinal Neoplasms–Mortality ; Gastrointestinal Stromal Tumors–Genetics ; Gene Frequency–Metabolism ; Genetic Association Studies–Mortality ; Genetic Predisposition to Disease–Genetics ; Humans–Genetics ; Kaplan-Meier Estimate–Genetics ; Male–Genetics ; Mutation, Missense–Genetics ; Polymorphism, Single Nucleotide–Genetics ; Proto-Oncogene Proteins C-Kit–Genetics ; Antigens, Cd34 ; Proto-Oncogene Proteins C-Kit
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descriptionIdentifying gene mutations in individual tumors is critical to improve the efficacy of cancer therapy by matching targeted drugs to specific mutations. Gastrointestinal stromal tumors (GIST) are stromal or mesenchymal subepithelial neoplasms affecting the gastrointestinal tract and frequently contain activating gene mutations in either KIT or platelet-derived growth factor A (PDGFRA). Although GIST is highly responsive to several selective tyrosine kinase inhibitors, combined use of inhibitors targeting other mutations is needed to further prolong survival in patients with GIST. In this study, we aim to screen and identify genetic mutations in GIST for targeted therapy using the new Ion Torrent next-generation sequencing platform. Utilizing the Ion Ampliseq Cancer Panel, we sequenced 737 loci from 45 cancer-related genes using DNA extracted from formalin-fixed and paraffin-embedded (FFPE) samples of 121 human gastrointestinal stromal tumors, set up stringent parameters for reliable variant calling by filtering out potential raw base calling errors, and identified frequent mutations in the KIT gene. This study demonstrates the utility of using Ion Torrent sequencing to efficiently identify human cancer mutations. This may provide a molecular basis for clinically developing new drugs targeting these gene mutations for GIST therapy.
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titleFrequent KIT mutations in human gastrointestinal stromal tumors.
authorXu, Zhi ; Huo, Xinying ; Tang, Chuanning ; Ye, Hua ; Nandakumar, Vijayalakshmi ; Lou, Feng ; Zhang, Dandan ; Jiang, Shouwen ; Sun, Hong ; Dong, Haichao ; Zhang, Guangchun ; Liu, Zhiyuan ; Dong, Zhishou ; Guo, Baishuai ; Yan, He ; Yan, Chaowei ; Wang, Lu ; Su, Ziyi ; Li, Yangyang ; Gu, Dongying ; Zhang, Xiaojing ; Wu, Xiaomin ; Wei, Xiaowei ; Hong, Lingzhi ; Zhang, Yangmei ; Yang, Jinsong ; Gong, Yonglin ; Tang, Cuiju ; Jones, Lindsey ; Huang, Xue F ; Chen, Si-Yi ; Chen, Jinfei
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issue1
date2014-08-01