摘要肿瘤发生的过程是一个多基因参与的、逐渐演变的过程。基因组的不稳定是肿瘤细胞的重要功能特征之一，在肿瘤发生发展中发挥了重要作用。后基因组时代里，随着对基因组不稳定性的认识日益深入，其与肿瘤发生之间的关系愈发受到重视。目前认为，当肿瘤发生时，细胞基因组不稳定性与端粒损伤、基因修饰及DNA损伤修复受损等密切相关。本文着重阐述影响基因组不稳定的主要因素、常用的检测基因组不稳定的技术方法以及其临床诊疗中的应用等。（中华检验医学杂志，2016，39：311－314）

abstractsCarcinogenesis is a multistep process that a couple of genes involve in the initiation of this disease.As a pivotal hallmark of cancer, the genomic instability ensues in which genetic alterations when this process was initialized and developed. With the increasing number of studies on genomic instability, the scientists pay more attentions on its biological function at post-genomic era. Genomic instability in various carcinomas is associated with broken telomere, gene modification, and contributes to the dysfunction of DNA damage and repair pathways.This review focus on the factors involved in genomic instability, as well the current detection methods of genomic instability and their clinical application.