chromothripsis

http://www.nature.com/nrc/journal/v11/n2/full/nrc3012.html

It is generally assumed that tumours evolve through a progressive acquisition of mutations in the genome that allow cells to evade apoptosis, proliferate, invade and metastasize. However, in some instances one single event can lead to multiple coexisting mutations — the loss of telomeres results in end-to-end chromosome fusions that lead to chromosomal rearrangements. In a recent study published in Cell, Peter Campbell and his collaborators have identified a new phenomenon in which tens to hundreds of genomic rearrangements are acquired in one step. They have termed this process chromothripsis.

How is the chromosome restructured in such a dramatic way? The authors argue that the rearrangements are likely to occur in one single event rather than in a series of progressive and independent alterations. Sequential rearrangements would lead to an increasingly altered genomic structure with more than two copy number states of chromosomal fragments and mutations that would be unlikely to cluster together. In the one-single-event model proposed, the chromosome (chromo) shatters (thripsis) into tens to hundreds of pieces, and some of those pieces are subsequently glued back together in a random order by the DNA repair machinery.

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