Criteria for Inference of Chromothripsis in Cancer Genomes

Jan O. Korbel, Peter J. Campbell
2013 Cell  
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
more » ... 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. 1226 Cell 152, March 14, 2013 ª2013 Elsevier Inc.
doi:10.1016/j.cell.2013.02.023 pmid:23498933 fatcat:vzqzngmnzfbdlcilhnxnmuahui