Chromosome translocation based on illegitimate recombination in human tumors

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Abstract
Recurrent chromosome translocations in nonhematological tumors are restricted to specific subtypes, and their mechanism is currently unknown. Analysis of the sequence data of 113 interchromosomal junctions derived from 77 Ewing’s tumors carrying the characteristic t(11;22) translocation indicate that, in this tumor, translocations are initiated independently on each chromosome in regions that lack site specific recombination signal. Local sequence duplications, deletions, and, most importantly, inversions that are diagnostic of DNA hairpin formation indicate that, at the breakpoint, single-stranded DNA ends are processed individually before interchromosomal joining. Taken together, these observations suggest that chromosome translocations in Ewing’s tumors are mediated through a genuine illegitimate recombination mechanism.