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Cell. 2013 Mar 14;152(6):1226-36. doi: 10.1016/j.cell.2013.02.023.

Criteria for inference of chromothripsis in cancer genomes.

Author information

1
Genome 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.

PMID:
23498933
DOI:
10.1016/j.cell.2013.02.023
[Indexed for MEDLINE]
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