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Rapid detection of genetic mutations in individual breast cancer patients by next-generation DNA sequencing

Breast cancer is the most common malignancy in women and the leading cause of cancer deaths in women worldwide. Breast cancers are heterogenous and exist in many different subtypes (luminal A, luminal B, triple negative, and human epidermal growth factor receptor 2 (HER2) overexpressing), and each s... Full description

Journal Title: Human Genomics Feb 8, 2015, Vol.9(1)
Main Author: Liu, Suqin
Other Authors: Wang, Hongjiang , Zhang, Lizhi , Tang, Chuanning , Jones, Lindsey , Ye, Hua , Ban, Liying , Wang, Aman , Liu, Zhiyuan , Lou, Feng , Zhang, Dandan , Sun, Hong , Dong, Haichao , Zhang, Guangchun , Dong, Zhishou , Guo, Baishuai , Yan, He , Yan, Chaowei , Wang, Lu , Su, Ziyi , Li, Yangyang , Huang, Xue F , Chen, Si-Yi , Zhou, Tao
Format: Electronic Article Electronic Article
Language: English
Subjects:
ID: DOI: 10.1186/s40246-015-0024-4
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recordid: gale_ofa541669087
title: Rapid detection of genetic mutations in individual breast cancer patients by next-generation DNA sequencing
format: Article
creator:
  • Liu, Suqin
  • Wang, Hongjiang
  • Zhang, Lizhi
  • Tang, Chuanning
  • Jones, Lindsey
  • Ye, Hua
  • Ban, Liying
  • Wang, Aman
  • Liu, Zhiyuan
  • Lou, Feng
  • Zhang, Dandan
  • Sun, Hong
  • Dong, Haichao
  • Zhang, Guangchun
  • Dong, Zhishou
  • Guo, Baishuai
  • Yan, He
  • Yan, Chaowei
  • Wang, Lu
  • Su, Ziyi
  • Li, Yangyang
  • Huang, Xue F
  • Chen, Si-Yi
  • Zhou, Tao
subjects:
  • Breast Cancer – Care and Treatment
  • Breast Cancer – Analysis
  • Breast Cancer – Health Aspects
  • Precision Medicine – Analysis
  • Precision Medicine – Health Aspects
  • DNA Sequencing – Analysis
  • DNA Sequencing – Health Aspects
  • Cancer Genetics – Care and Treatment
  • Cancer Genetics – Analysis
  • Cancer Genetics – Health Aspects
  • Pharmacogenomics – Analysis
  • Pharmacogenomics – Health Aspects
  • Tumor Proteins – Care and Treatment
  • Tumor Proteins – Analysis
  • Tumor Proteins – Health Aspects
  • Cancer Research – Analysis
  • Cancer Research – Health Aspects
  • DNA – Analysis
  • DNA – Health Aspects
  • Gene Mutation – Analysis
  • Gene Mutation – Health Aspects
ispartof: Human Genomics, Feb 8, 2015, Vol.9(1)
description: Breast cancer is the most common malignancy in women and the leading cause of cancer deaths in women worldwide. Breast cancers are heterogenous and exist in many different subtypes (luminal A, luminal B, triple negative, and human epidermal growth factor receptor 2 (HER2) overexpressing), and each subtype displays distinct characteristics, responses to treatment, and patient outcomes. In addition to varying immunohistochemical properties, each subtype contains a distinct gene mutation profile which has yet to be fully defined. Patient treatment is currently guided by hormone receptor status and HER2 expression, but accumulating evidence suggests that genetic mutations also influence drug responses and patient survival. Thus, identifying the unique gene mutation pattern in each breast cancer subtype will further improve personalized treatment and outcomes for breast cancer patients. In this study, we used the Ion Personal Genome Machine (PGM) and Ion Torrent AmpliSeq Cancer Panel to sequence 737 mutational hotspot regions from 45 cancer-related genes to identify genetic mutations in 80 breast cancer samples of various subtypes from Chinese patients. Analysis revealed frequent missense and combination mutations in PIK3CA and TP53, infrequent mutations in PTEN, and uncommon combination mutations in luminal-type cancers in other genes including BRAF, GNAS, IDH1, and KRAS. This study demonstrates the feasibility of using Ion Torrent sequencing technology to reliably detect gene mutations in a clinical setting in order to guide personalized drug treatments or combination therapies to ultimately target individual, breast cancer-specific mutations. Keywords: Breast cancer, Genetic mutations, Ion torrent sequencing, Targeted therapy, Personalized medicine
language: eng
source:
identifier: DOI: 10.1186/s40246-015-0024-4
fulltext: fulltext
url: Link


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titleRapid detection of genetic mutations in individual breast cancer patients by next-generation DNA sequencing
creatorLiu, Suqin ; Wang, Hongjiang ; Zhang, Lizhi ; Tang, Chuanning ; Jones, Lindsey ; Ye, Hua ; Ban, Liying ; Wang, Aman ; Liu, Zhiyuan ; Lou, Feng ; Zhang, Dandan ; Sun, Hong ; Dong, Haichao ; Zhang, Guangchun ; Dong, Zhishou ; Guo, Baishuai ; Yan, He ; Yan, Chaowei ; Wang, Lu ; Su, Ziyi ; Li, Yangyang ; Huang, Xue F ; Chen, Si-Yi ; Zhou, Tao
ispartofHuman Genomics, Feb 8, 2015, Vol.9(1)
identifierDOI: 10.1186/s40246-015-0024-4
subjectBreast Cancer – Care and Treatment ; Breast Cancer – Analysis ; Breast Cancer – Health Aspects ; Precision Medicine – Analysis ; Precision Medicine – Health Aspects ; DNA Sequencing – Analysis ; DNA Sequencing – Health Aspects ; Cancer Genetics – Care and Treatment ; Cancer Genetics – Analysis ; Cancer Genetics – Health Aspects ; Pharmacogenomics – Analysis ; Pharmacogenomics – Health Aspects ; Tumor Proteins – Care and Treatment ; Tumor Proteins – Analysis ; Tumor Proteins – Health Aspects ; Cancer Research – Analysis ; Cancer Research – Health Aspects ; DNA – Analysis ; DNA – Health Aspects ; Gene Mutation – Analysis ; Gene Mutation – Health Aspects
descriptionBreast cancer is the most common malignancy in women and the leading cause of cancer deaths in women worldwide. Breast cancers are heterogenous and exist in many different subtypes (luminal A, luminal B, triple negative, and human epidermal growth factor receptor 2 (HER2) overexpressing), and each subtype displays distinct characteristics, responses to treatment, and patient outcomes. In addition to varying immunohistochemical properties, each subtype contains a distinct gene mutation profile which has yet to be fully defined. Patient treatment is currently guided by hormone receptor status and HER2 expression, but accumulating evidence suggests that genetic mutations also influence drug responses and patient survival. Thus, identifying the unique gene mutation pattern in each breast cancer subtype will further improve personalized treatment and outcomes for breast cancer patients. In this study, we used the Ion Personal Genome Machine (PGM) and Ion Torrent AmpliSeq Cancer Panel to sequence 737 mutational hotspot regions from 45 cancer-related genes to identify genetic mutations in 80 breast cancer samples of various subtypes from Chinese patients. Analysis revealed frequent missense and combination mutations in PIK3CA and TP53, infrequent mutations in PTEN, and uncommon combination mutations in luminal-type cancers in other genes including BRAF, GNAS, IDH1, and KRAS. This study demonstrates the feasibility of using Ion Torrent sequencing technology to reliably detect gene mutations in a clinical setting in order to guide personalized drug treatments or combination therapies to ultimately target individual, breast cancer-specific mutations. Keywords: Breast cancer, Genetic mutations, Ion torrent sequencing, Targeted therapy, Personalized medicine
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titleRapid detection of genetic mutations in individual breast cancer patients by next-generation DNA sequencing.
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abstractBreast cancer is the most common malignancy in women and the leading cause of cancer deaths in women worldwide. Breast cancers are heterogenous and exist in many different subtypes (luminal A, luminal B, triple negative, and human epidermal growth factor receptor 2 (HER2) overexpressing), and each subtype displays distinct characteristics, responses to treatment, and patient outcomes. In addition to varying immunohistochemical properties, each subtype contains a distinct gene mutation profile which has yet to be fully defined. Patient treatment is currently guided by hormone receptor status and HER2 expression, but accumulating evidence suggests that genetic mutations also influence drug responses and patient survival. Thus, identifying the unique gene mutation pattern in each breast cancer subtype will further improve personalized treatment and outcomes for breast cancer patients. In this study, we used the Ion Personal Genome Machine (PGM) and Ion Torrent AmpliSeq Cancer Panel to sequence 737 mutational hotspot regions from 45 cancer-related genes to identify genetic mutations in 80 breast cancer samples of various subtypes from Chinese patients. Analysis revealed frequent missense and combination mutations in PIK3CA and TP53, infrequent mutations in PTEN, and uncommon combination mutations in luminal-type cancers in other genes including BRAF, GNAS, IDH1, and KRAS. This study demonstrates the feasibility of using Ion Torrent sequencing technology to reliably detect gene mutations in a clinical setting in order to guide personalized drug treatments or combination therapies to ultimately target individual, breast cancer-specific mutations. Keywords: Breast cancer, Genetic mutations, Ion torrent sequencing, Targeted therapy, Personalized medicine
pubBioMed Central Ltd.
doi10.1186/s40246-015-0024-4
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date2015-02-08