Chromosome copy number imbalances, otherwise known as aneuploidies, are a common but poorly understood feature of cancer. Here, we describe recent advances in both detecting and manipulating aneuploidies that have greatly advanced our ability to study their role in tumorigenesis. In particular, new clustered regularly interspaced short palindromic repeats (CRISPR)-based techniques have been developed that allow the creation of isogenic cell lines with specific chromosomal changes, thereby facilitating experiments in genetically controlled backgrounds to uncover the consequences of aneuploidy. These approaches provide increasing evidence that aneuploidy is a key driver of cancer development and enable the identification of multiple dosage-sensitive genes encoded on aneuploid chromosomes. Consequently, measuring aneuploidy may inform clinical prognosis, while treatment strategies that target aneuploidy could represent a novel method to counter malignant growth.

染色体拷贝数失衡，也称为非整倍体，是癌症的一个常见但人们知之甚少的特征。在这里，我们描述了检测和操纵非整倍体方面的最新进展，这些进展极大地提高了我们研究它们在肿瘤发生中的作用的能力。特别是，已经开发出基于成簇规则间隔短回文重复序列（CRISPR）的新技术，可以创建具有特定染色体变化的同基因细胞系，从而促进在遗传控制背景下进行实验，以揭示非整倍性的后果。这些方法提供了越来越多的证据，表明非整倍体是癌症发展的关键驱动因素，并且能够鉴定非整倍体染色体上编码的多个剂量敏感基因。因此，测量非整倍性可以为临床预后提供信息，而针对非整倍性的治疗策略可以代表一种对抗恶性生长的新方法。