Journal
GENES & DEVELOPMENT
Volume 27, Issue 23, Pages 2513-2530Publisher
COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT
DOI: 10.1101/gad.229559.113
Keywords
chromothripsis; chromoplexy; chromoanasynthesis; genome evolution; cancer; chromosomal translocation; copy number lteration
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Funding
- National Cancer Institute [U24CA143867]
- National Science Foundation [DGE1144152]
- Howard Hughes Medical Institute
- National Institute of Health [GM083299]
- G. Harold and Leila Y. Mathers Charitable Foundation
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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.
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