Discovery of Complex Genomic Rearrangements in Cancer Using High-Throughput Sequencing

摘要

High-throughput sequencing now allows researchers to identify patterns of rearrangement in tumour genomes, and has led to the discovery of Complex Genomic Rearrangements (CGRs) as a new cytogenetic feature of some cancers. Closed chain breakage and rejoining (CCBR), a generalization of reciprocal transloca-tion, was recently identified in prostate cancer [4]. CCBRs involve the balanced rearrangement of some n loci, and thus have the potential to fuse or interrupt up to n genes. In addition, dispersed throughout some breast cancer genomes are 'genomic shards', small fragments of DNA originating from elsewhere in the genome and inserted at the breakpoints of larger scale rearrangements.