Mechanisms of tandem duplication in the cancer genome.

Document Type

Article

Publication Date

1-1-2025

Publication Title

DNA repair

Keywords

JGM, Humans, Neoplasms, Gene Duplication, Genome, Human, Tandem Repeat Sequences, DNA Replication, Animals, Oncogenes

JAX Source

DNA Repair (Amst). 2025;145:103802.

Volume

145

First Page

103802

Last Page

103802

ISSN

1568-7856

PMID

39742573

DOI

https://doi.org/10.1016/j.dnarep.2024.103802

Grant

This work was supported by grant R35CA263813 (to R.S.), R01CA255705 to E.T.L and F.M., D.G. is supported by the ‘major grant’ award from the Fund for Innovation in Cancer Informatics

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.

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