Center for Cancer Genome Discovery, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA, USA.
J Clin Oncol. 2010 Dec 10;28(35):5219-28. doi: 10.1200/JCO.2009.27.4944. Epub 2010 Oct 25.
Cancer is a disease of the genome. Most tumors harbor a constellation of structural genomic alterations that may dictate their clinical behavior and treatment response. Whereas elucidating the nature and importance of these genomic alterations has been the goal of cancer biologists for several decades, ongoing global genome characterization efforts are revolutionizing both tumor biology and the optimal paradigm for cancer treatment at an unprecedented scope. The pace of advance has been empowered, in large part, through disruptive technological innovations that render complete cancer genome characterization feasible on a large scale. This article highlights cardinal biologic and clinical insights gleaned from systematic cancer genome characterization. We also discuss how the convergence of cancer genome biology, technology, and targeted therapeutics articulates a cohesive framework for the advent of personalized cancer medicine.
癌症是一种基因组疾病。大多数肿瘤都存在一系列结构基因组改变,这些改变可能决定了它们的临床行为和治疗反应。几十年来,阐明这些基因组改变的性质和重要性一直是癌症生物学家的目标,而正在进行的全球基因组特征描述工作正在以前所未有的规模彻底改变肿瘤生物学和癌症治疗的最佳范例。这一进展在很大程度上得益于颠覆性的技术创新,这些创新使得大规模实现癌症全基因组特征描述成为可能。本文重点介绍了从系统癌症基因组特征描述中获得的主要生物学和临床见解。我们还讨论了癌症基因组生物学、技术和靶向治疗的融合如何为个性化癌症医学的出现提供了一个连贯的框架。