Litcius/Paper detail

Aneuploidy and complex genomic rearrangements in cancer evolution

Toby M. Baker, Sara Waise, Maxime Tarabichi, Peter Van Loo

2024Nature Cancer55 citationsDOIOpen Access PDF

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. Van Loo and colleagues review the mechanistic underpinnings of large genomic alterations and their roles in tumor development and evolution.

Topics & Concepts

ChromothripsisBiologyExtrachromosomal DNAGeneticsGenome instabilityGeneGenomeEvolutionary biologyComputational biologyDNADNA damageCancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalitiesEpigenetics and DNA Methylation