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Review
. 2025 Jan:145:103802.
doi: 10.1016/j.dnarep.2024.103802. Epub 2024 Dec 25.

Mechanisms of tandem duplication in the cancer genome

Ralph Scully  1 , Dominik Glodzik  2 , Francesca Menghi  3 , Edison T Liu  3 , Cheng-Zhong Zhang  4
Affiliations
Review

Mechanisms of tandem duplication in the cancer genome

Ralph Scully et al. DNA Repair (Amst). 2025 Jan.

Abstract

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.

Keywords: BRCA1; Break-induced replication; Breakage-fusion; CDK12; Cyclin E; Single strand annealing; Sister replication fork; Sister replisome; Structural variant; Tandem duplication.

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Conflict of interest statement

Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

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