Abstract
Mutational processes that alter large genomic regions occur frequently in developing tumors. They range from simple copy number gains and losses to the shattering and reassembly of entire chromosomes. These catastrophic events, such as chromothripsis, chromoplexy and the formation of extrachromosomal DNA, affect the expression of many genes and therefore have a substantial effect on the fitness of the cells in which they arise. In this review, we cover large genomic alterations, the mechanisms that cause them and their effect on tumor development and evolution.
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Acknowledgements
The authors thank N. Pillay for helpful discussion on the manuscript. T.M.B., S.W. and P.V.L. are supported by the Francis Crick Institute, which receives its core funding from Cancer Research UK (CC2008), the UK Medical Research Council (CC2008) and the Wellcome Trust (CC2008). For the purpose of open access, the authors have applied a CC BY public copyright license to any author accepted manuscript version arising from this submission. T.M.B. is supported by a PhD fellowship from Boehringer Ingelheim Fonds. S.W. is a Jean Shanks/Pathological Society Clinical Lecturer. M.T. was supported as a postdoctoral researcher of the F.R.S.-FNRS. P.V.L. is a CPRIT Scholar in Cancer Research and acknowledges CPRIT grant support (RR210006).
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Baker, T.M., Waise, S., Tarabichi, M. et al. Aneuploidy and complex genomic rearrangements in cancer evolution. Nat Cancer 5, 228–239 (2024). https://doi.org/10.1038/s43018-023-00711-y
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DOI: https://doi.org/10.1038/s43018-023-00711-y
