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Updated: May 13, 2026

Chromosome Preparation From Cultured Cells
Published on: January 28, 2014
Chromothripsis in congenital disorders and cancer: similarities and differences
Wigard P Kloosterman1, Edwin Cuppen
1Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands. w.kloosterman@umcutrecht.nl
Abstract:
Genomic rearrangements may give rise to congenital disease and contribute to cancer development. Recent evidence has shown that very complex genomic rearrangements in cancer cells can result from a single catastrophic event of massive DNA breakage and repair, termed chromothripsis. This results in heavily rearranged chromosomes comprising frequent sequence losses. A very similar process of chromosome shattering is found for complex chromosome rearrangements in the germline of patients with congenital disorders. Here, we review the literature on chromothripsis in cancer and congenital disease. We describe differences and similarities for chromothripsis rearrangements in somatic tissue and the germ line and we discuss the cellular origin and molecular mechanisms of chromothripsis.
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