high-throughput analysis of chromosome translocations and other genome rearrangements in epithelial cancers高通量分析染色体易位和其他上皮癌基因组重组.pdfVIP

Newman and Edwards Genome Medicine 2010, 2:19 /content/2/3/19 M I N I R E V I E W High-throughput analysis of chromosome translocations and other genome rearrangements in epithelial cancers Scott Newman* and Paul AW Edwards* In stark contrast to leukemias, lymphomas and Abstract sarcomas, in which many important oncogenes have Genes that are broken or fused by structural changes been identified at translocation breaks, we have a poor to the genome are an important class of mutation in understanding of how structural variations contribute to the leukemias and sarcomas but have been largely carcinogenesis in common epithelial tumors [1,2]. overlooked in the common epithelial cancers. Large- Although we have relatively good knowledge of which scale sequencing is changing our perceptions of genes can be point-mutated, amplified or deleted in these the cancer genome, and it is now being applied to cancers, the sheer number and complexity of their structural changes, using the ‘paired end’ strategy. This genome rearrangements has made it difficult to identify reveals more clearly than before the extent to which genes at chromosome breakpoints [2]. We have known many cancer genomes are rearranged and how much for several years that recurrent gene fusions are found in these rearrangements contribute to the mutational common epithelial cancers, following the discovery of burden of epithelial tumors. In particular, there are