title: Chromothripsis and beyond: rapid genome evolution from complex chromosomal rearrangements.
abstract: Recent genome sequencing studies have identified several classes of complex genomic rearrangements that appear to be derived from a single catastrophic event. These discoveries identify ways that genomes can be altered in single large jumps rather than by many incremental steps. Here we compare and contrast these phenomena and examine the evidence that they arise "all at once." We consider the impact of massive chromosomal change for the development of diseases such as cancer and for evolution more generally. Finally, we summarize current models for underlying mechanisms and discuss strategies for testing these models.
authors.affiliation: Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA;
authors.forename: Cheng-Zhong
authors.initials: CZ
authors.lastname: Zhang
authors.forename: Mitchell L
authors.initials: ML
authors.lastname: Leibowitz
authors.forename: David
authors.initials: D
authors.lastname: Pellman
mesh_terms: D002869:Chromosome Aberrations; D019143:Evolution, Molecular; D015321:Gene Rearrangement / Q000235:genetics*; D015894:Genome, Human / Q000235:genetics*; D042822:Genomic Instability; D006801:Humans
keywords: cancer; chromoanasynthesis; chromoplexy; chromosomal translocation; chromothripsis; copy number alteration; genome evolution