人类癌症基因组的检验分析与临床应用

摘要

Genomic aberrations cause cancers through activation of cancer genes and consequently functional changes of cellular processes or signal transduction pathways.Technological advances have allowed us to interrogate DNA aberrations not only in a single cancer gene,but also in a panel of cancer genes or the entire human cancer genome.Discovery of new genomic aberrations has increased our understanding of carcinogenesis,and revolutionalized the diagnosis,classification and treatment of human cancers as well.This review provides an overview of the organization of the human genome,laboratory methods of human genome analysis, genomic alterations in human cancers,and clinical application of human cancer genomics.%基因组的改变会导致癌症的发生，这一切是通过癌症基因活化与继后细胞程序或信号转导通路的功能性改变所形成的。随着科技的不断发展，我们不仅仅能够对单一癌症基因序列的改变进行研究，还能够对一系列癌症基因或整个人类癌症基因组序列的改变进行探索。新型基因组改变的发现，提升了我们对癌病变的认知与了解，同时这一发现对人类癌症的诊断、分类与治疗有着一定的变革性作用。这篇综述对人类基因组的结构、人类基因组的检验方法、人类癌症基因组的变化、以及人类癌症基因组学的临床应用做了相应的介绍。