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

Overview

Journal J Mol Genet Med

Publisher Omics Publishing Group

Specialty Genetics

Date 2016 Feb 13

PMID 26870154

Citations 12

Authors

Yanfeng Zhang

Qiuyin Cai

Xiao-Ou Shu

Yu-Tang Gao

Chun Li

Wei Zheng

Jirong Long

Affiliations

Soon will be listed here.

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 the , and genes were found in two or more tumor samples in the replication stage. Mutations in the , and 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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