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Updated: Apr 29, 2026

Chromosome Replicating Timing Combined with Fluorescent In situ Hybridization
Published on: December 10, 2012
Criteria for inference of chromothripsis in cancer genomes
Jan O Korbel1, Peter J Campbell
1Genome Biology Unit, European Molecular Biology Laboratory, 69117 Heidelberg, Germany. jan.korbel@embl.de
Abstract:
Chromothripsis scars the genome when localized chromosome shattering and repair occurs in a one-off catastrophe. Outcomes of this process are detectable as massive DNA rearrangements affecting one or a few chromosomes. Although recent findings suggest a crucial role of chromothripsis in cancer development, the reproducible inference of this process remains challenging, requiring that cataclysmic one-off rearrangements be distinguished from localized lesions that occur progressively. We describe conceptual criteria for the inference of chromothripsis, based on ruling out the alternative hypothesis that stepwise rearrangements occurred. Robust means of inference may facilitate in-depth studies on the impact of, and the mechanisms underlying, chromothripsis.
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