Pathways to chromothripsis

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


Chromothripsis is a recently recognized mode of genetic instability that generates chromosomes with strikingly large numbers of segmental re-arrangements. While the characterization of these derivative chromosomes has provided new insights into the processes by which cancer genomes can evolve, the underlying signaling events and molecular mechanisms remain unknown. In medulloblastomas, chromothripsis has been observed to occur in the context of mutational inactivation of p53 and activation of the canonical Hedgehog (Hh) pathway. Recent studies have illuminated mechanistic links between these 2 signaling pathways, including a novel PTCH1 homolog that is regulated by p53. Here, we integrate this new pathway into a hypothetical model for the catastrophic DNA breakage that appears to trigger profound chromosomal rearrangements.

Original languageEnglish (US)
Pages (from-to)2886-2890
Number of pages5
JournalCell Cycle
Issue number18
StatePublished - 2015


  • Chromothripsis
  • Hedgehog
  • Medulloblastoma
  • P53
  • PTCH53

ASJC Scopus subject areas

  • Molecular Biology
  • Developmental Biology
  • Cell Biology


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