Chromothripsis and cancer: causes and consequences of chromosome shattering

Nat Rev Cancer. 2012 Oct;12(10):663-70. doi: 10.1038/nrc3352. Epub 2012 Sep 13.


Genomic alterations that lead to oncogene activation and tumour suppressor loss are important driving forces for cancer development. Although these changes can accumulate progressively during cancer evolution, recent studies have revealed that many cancer cells harbour chromosomes bearing tens to hundreds of clustered genome rearrangements. In this Review, we describe how this striking phenomenon, termed chromothripsis, is likely to arise through chromosome breakage and inaccurate reassembly. We also discuss the potential diagnostic, prognostic and therapeutic implications of chromothripsis in cancer.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Chromosome Aberrations*
  • Chromosome Breakage*
  • Chromosomes, Human*
  • Chromosomes, Mammalian
  • DNA Repair*
  • Gene Rearrangement*
  • Genes, Tumor Suppressor
  • Humans
  • Neoplasms / genetics*