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

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• 作者：Suqin Liu (1)
  Hongjiang Wang (1)
  Lizhi Zhang (1)
  Chuanning Tang (2)
  Lindsey Jones (3)
  Hua Ye (2)
  Liying Ban (1)
  Aman Wang (1)
  Zhiyuan Liu (2)
  Feng Lou (2)
  Dandan Zhang (2)
  Hong Sun (2)
  Haichao Dong (2)
  Guangchun Zhang (2)
  Zhishou Dong (2)
  Baishuai Guo (2)
  He Yan (2)
  Chaowei Yan (2)
  Lu Wang (2)
  Ziyi Su (2)
  Yangyang Li (2)
  Xue F Huang (3)
  Si-Yi Chen (3)
  Tao Zhou (1)
  
  1. The First Affiliated Hospital of Dalian Medical University ; Dalian ; Liaoning ; China
  2. San Valley Biotechnology Incorporated ; Beijing ; China
  3. Norris Comprehensive Cancer Center ; Department of Molecular Microbiology and Immunology ; Keck School of Medicine ; University of Southern California ; Los Angeles ; CA ; USA
  
• 关键词：Breast cancer ; Genetic mutations ; Ion torrent sequencing ; Targeted therapy ; Personalized medicine
• 刊名：Human Genomics
• 出版年：2015
• 出版时间：December 2015
• 年：2015
• 卷：9
• 期：1
• 全文大小：1,627 KB
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• 刊物主题：Human Genetics; Proteomics; Bioinformatics;
• 出版者：BioMed Central
• ISSN：1479-7364

文摘

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.