由基因组结构变异引起的体细胞重排事件可以通过改变癌基因的表达或功能来驱动恶性表型。全癌症研究表明在大多数癌症类型中，结构变异（SVs）是驱动突变的主要类型，但由于难以发现，与点突变相比，它们仍未得到充分研究。本文提供了关于体细胞SVs的当前知识概览，讨论了它们的主要作用、在不同背景下的普遍性以及突变机制。SVs在癌症生命周期中产生，全基因组分析项目揭示的驱动突变中，55％是SVs。借助细胞生物学和基因组学的融合，我们提出了一种体细胞重排的机械分类，从简单到高度复杂的DNA重排类。DNA修复和DNA复制过程以及有丝分裂错误的作用导致了一系列SVs形成过程，形成多样的结构多样性。由于新的测序技术，包括单细胞基因组测序，现在可以解决有关SVs形成的分子触发器和参与的生物分子以及它们的突变速率的开放性问题。

Somatic rearrangements resulting in genomic structural variation drive malignant phenotypes by altering the expression or function of cancer genes. Pan-cancer studies have revealed that structural variants (SVs) are the predominant class of driver mutation in most cancer types, but because they are difficult to discover, they remain understudied when compared with point mutations. This review provides an overview of the current knowledge of somatic SVs, discussing their primary roles, prevalence in different contexts, and mutational mechanisms. SVs arise throughout the life history of cancer, and 55% of driver mutations uncovered by the Pan-Cancer Analysis of Whole Genomes project represent SVs. Leveraging the convergence of cell biology and genomics, we propose a mechanistic classification of somatic SVs, from simple to highly complex DNA rearrangement classes. The actions of DNA repair and DNA replication processes together with mitotic errors result in a rich spectrum of SV formation processes, with cascading effects mediating extensive structural diversity after an initiating DNA lesion has formed. Thanks to new sequencing technologies, including the sequencing of single-cell genomes, open questions about the molecular triggers and the biomolecules involved in SV formation as well as their mutational rates can now be addressed.