癌症基因组中串联重复的机制。
Mechanisms of tandem duplication in the cancer genome.
作者信息
Scully Ralph, Glodzik Dominik, Menghi Francesca, Liu Edison T, Zhang Cheng-Zhong
机构信息
Department of Medicine, Division of Hematology-Oncology and Cancer Research Institute, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA 02215, USA.
Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
出版信息
DNA Repair (Amst). 2025 Jan;145:103802. doi: 10.1016/j.dnarep.2024.103802. Epub 2024 Dec 25.
Tandem duplications (TD) are among the most frequent type of structural variant (SV) in the cancer genome. They are characterized by a single breakpoint junction that defines the boundaries and the size of the duplicated segment. Cancer-associated TDs often increase oncogene copy number or disrupt tumor suppressor gene function, and thus have important roles in tumor evolution. TDs in cancer genomes fall into three classes, defined by the size of duplications, and are associated with distinct genetic drivers. In this review, we survey key features of cancer-related TDs and consider possible underlying mechanisms in relation to stressed DNA replication and the 3D organization of the S phase genome.
串联重复（TD）是癌症基因组中最常见的结构变异（SV）类型之一。它们的特征是有一个单一的断点连接，该连接定义了重复片段的边界和大小。与癌症相关的TD通常会增加癌基因的拷贝数或破坏肿瘤抑制基因的功能，因此在肿瘤进化中发挥重要作用。癌症基因组中的TD可分为三类，由重复的大小定义，并与不同的遗传驱动因素相关。在本综述中，我们概述了癌症相关TD的关键特征，并探讨了与应激DNA复制和S期基因组的三维组织相关的潜在机制。
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