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Whole-Exome Sequencing Identifies Novel Somatic Mutations in Chinese Breast Cancer Patients | OMICS International | Abstract
ISSN: 1747-0862

Journal of Molecular and Genetic Medicine
Open Access

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Research Article

Whole-Exome Sequencing Identifies Novel Somatic Mutations in Chinese Breast Cancer Patients

Yanfeng Zhang1, Qiuyin Cai1, Xiao-Ou Shu1, Yu-Tang Gao2, Chun Li3, Wei Zheng1 and Jirong Long1*

1Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA

2Department of Epidemiology, Shanghai Cancer Institute, Shanghai, China

3Department of Biostatistics, Vanderbilt University School of Medicine, Nashville, TN, USA

Corresponding Author:
Jirong Long Ph.D.
Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center
Vanderbilt University School of Medicine, 2525 West End Avenue
8th Floor Nashville, TN 37203-1738, USA
Tel: (615) 343-6741
Fax: (615) 936-8241
E-mail: [email protected]

Received Date: July 10, 2015 Accepted Date: September 18, 2015 Published Date: September 25, 2015

Citation: Zhang Y, Cai Q, Shu XO, Gao YT, Li C, et al. (2015) Whole-Exome Sequencing Identifies Novel Somatic Mutations in Chinese Breast Cancer Patients. J Mol Genet Med 9:183. doi:10.4172/1747-0862.1000183

Copyright: © 2015 Zhang Y, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


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 the TRPM6, HYDIN, ENTHD1, and NDUFB10 genes were found in two or more tumor samples in the replication stage. Mutations in the ADRA1B, CBFB, KIAA2022, and RBM25 genes 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.


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