Division of Molecular Genetics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Int J Cancer. 2016 May 15;138(10):2322-33. doi: 10.1002/ijc.29888. Epub 2015 Oct 30.
In 2011, a novel form of genome instability was reported by Stephens et al., characterized by tens to hundreds of locally clustered rearrangements affecting one or a few chromosome(s) in cancer cells. This phenomenon, termed chromothripsis, is likely due to a single catastrophic event leading to the simultaneous formation of multiple double-strand breaks, which are repaired by error-prone mechanisms. Since then, the occurrence of chromothripsis was detected in a wide range of tumor entities. In this review, we will discuss potential mechanisms of chromothripsis initiation in cancer and outline the prevalence of chromothripsis across entities. Furthermore, we will examine how chromothriptic events may promote cancer development and how they may affect cancer therapy.
2011 年,Stephens 等人报道了一种新型的基因组不稳定性形式,其特征是数十到数百个局部聚集的重排,影响癌细胞中的一个或几个染色体。这种现象称为染色体重排,可能是由于单个灾难性事件导致多个双链断裂的同时形成,这些断裂通过易错机制进行修复。自那时以来,染色体重排已在广泛的肿瘤实体中被检测到。在这篇综述中,我们将讨论癌症中染色体重排起始的潜在机制,并概述染色体重排在实体瘤中的普遍性。此外,我们将研究染色体重排事件如何促进癌症的发展,以及它们如何影响癌症治疗。