关键词: 乳腺肿瘤, 疾病遗传易感性, 序列分析, 全外显子组测序

Abstract: Genetic susceptibility factor is one of the important reasons to induce breast cancer. Breast cancer risk variants are divided into three categories including high, moderate and low penetrances. Traditional BC susceptibility gene discovery approaches limit the search for breast cancer susceptibility genes with high and moderate risk variants. Whole exome sequencing technology provides a quick and efficient method to discover breast cancer susceptibility genes. At present, a number of breast cancer susceptibility genes have been identified by whole exome sequencing method, which provides useful guidance for the risk assessment and pathogenesis of hereditary breast cancer. In this paper, we reviewed the whole exome sequencing technology and discussed the experimental design, data filtering strategy, statistical significance and correlation analysis.

Key words: breast neoplasms, genetic predisposition to disease, sequence analysis, whole exome sequencing