title: Whole-Exome Sequencing Identifies Novel Somatic Mutations in Chinese Breast Cancer Patients.
abstract: Most breast cancer genomes harbor complex mutational landscapes. Somatic alterations have been predominantly discovered in breast cancer patients of European ancestry; however, little is known about somatic aberration in patients of other ethnic groups including Asians. In the present study, whole-exome sequencing (WES) was conducted in DNA extracted from tumor and matched adjacent normal tissue samples from eleven early onset breast cancer patients who were included in the Shanghai Breast Cancer Study. We discovered 159 somatic missense and ten nonsense mutations distributed among 167 genes. The most frequent 50 somatic mutations identified by WES were selected for validation using Sequenom MassARRAY system in the eleven breast cancer patients and an additional 433 tumor and 921 normal tissue/blood samples from the Shanghai Breast Cancer Study. Among these 50 mutations selected for validation, 32 were technically validated. Within the validated mutations, somatic mutations in theTRPM6, HYDIN, ENTHD1, andNDUFB10genes were found in two or more tumor samples in the replication stage. Mutations in theADRA1B, CBFB, KIAA2022, andRBM25genes were observed once in the replication stage. To summarize, this study identified some novel somatic mutations for breast cancer. Future studies will need to be conducted to determine the function of these mutations/genes in the breast carcinogenesis.
authors: Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA.
authors: Yanfeng
authors: Y
authors: Zhang
authors: Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA.
authors: Qiuyin
authors: Q
authors: Cai
authors: Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA.
authors: Xiao-Ou
authors: XO
authors: Shu
authors: Department of Epidemiology, Shanghai Cancer Institute, Shanghai, China.
authors: Yu-Tang
authors: YT
authors: Gao
authors: Department of Biostatistics, Vanderbilt University School of Medicine, Nashville, TN, USA.
authors: Chun
authors: C
authors: Li
authors: Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA.
authors: Wei
authors: W
authors: Zheng
authors: Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA.
authors: Jirong
authors: J
authors: Long
keywords: Breast cancer; Chinese population; Exome sequencing; Somatic mutation