全外显子测序在乳腺癌发病机制及诊疗中的研究进展

Progress of Whole Exon Sequencing in Pathogenesis and Diagnosis of Breast Cancer

全外显子测序是利用序列捕获技术将全基因组外显子区域DNA捕捉并富集后进行高通量测序的基因组分析方法,该技术已经应用到各种复杂疾病的基因诊疗中。目前,乳腺癌的发病机制尚未完全阐明,而体细胞基因突变造成的癌基因激活与抑癌基因失活在乳腺癌发生发展的过程中扮演着至关重要的作用。近年来,众多研究小组开展了大量的全外显子测序研究,发现并鉴定了许多与复杂疾病/性状相关联的遗传变异,为复杂疾病包括乳腺癌的发病机制研究提供了重要线索。本文就全外显子测序在乳腺癌的发病机制及其诊治研究进行综述。

Whole exon sequencing is a genomic analysis method that uses sequence capture technology to capture and enrich the whole genome exon region DNA for high-throughput sequencing. This technology has been applied to gene diagnosis and treatment of various complex diseases. At present, the pathogenesis of breast cancer has not been clearly elucidated, and the activation of oncogenes and the inactivation of tumor suppressor genes caused by gene mutation of somatic cells play a crucial role in the development of breast cancer. In recent years, numerous research groups have carried out a large number of whole exon sequencing researches, found and identified many genetic mutations associated with complex diseases/traits,which provide important clues for the study of the pathogenesis of complex diseases. This paper reviews the pathogenesis and diagnosis and treatment of breast cancer by whole exon sequencing.