非整倍性是一种异常的染色体组成，是癌症发生和进展的主要因素，也是癌症治疗反应和临床结果的重要决定因素。尽管被认为是人类癌症的一个标志，但非整倍性作为癌症“驱动因素”的确切作用仍然很大程度上未知。识别常见非整倍体复发的特定遗传因素仍然是癌症遗传学的主要挑战。在这篇综述中，我们讨论了复发性非整倍体及其作为肿瘤发展驱动因素的功能。然后，我们深入研究驱动非整倍体背后的驱动基因的上下文相关识别和功能表征，并研究使用癌症基因组数据和癌症模型发现这些驱动基因的新兴策略。最后，我们通过利用这些常见遗传改变的功能性后果，探索针对癌症驱动非整倍体的机会。© 2024。Springer Nature America, Inc.

Aneuploidy, an abnormal chromosome composition, is a major contributor to cancer development and progression and an important determinant of cancer therapeutic responses and clinical outcomes. Despite being recognized as a hallmark of human cancer, the exact role of aneuploidy as a 'driver' of cancer is still largely unknown. Identifying the specific genetic elements that underlie the recurrence of common aneuploidies remains a major challenge of cancer genetics. In this Review, we discuss recurrent aneuploidies and their function as drivers of tumor development. We then delve into the context-dependent identification and functional characterization of the driver genes underlying driver aneuploidies and examine emerging strategies to uncover these driver genes using cancer genomics data and cancer models. Lastly, we explore opportunities for targeting driver aneuploidies in cancer by leveraging the functional consequences of these common genetic alterations.© 2024. Springer Nature America, Inc.