Genome Medicine


Minireview

High-throughput analysis of chromosome translocations and other genome rearrangements in epithelial cancers

Scott Newman and Paul AW Edwards

Author Affiliations

Hutchison-MRC Research Centre and Department of Pathology, University of Cambridge, Hills Road, Cambridge, CB2 0XZ, UK

Genome Medicine 2010, 2:19 doi:10.1186/gm140

Published: 17 March 2010

Abstract

Genes that are broken or fused by structural changes to the genome are an important class of mutation in the leukemias and sarcomas but have been largely overlooked in the common epithelial cancers. Large-scale sequencing is changing our perceptions of the cancer genome, and it is now being applied to structural changes, using the 'paired end' strategy. This reveals more clearly than before the extent to which many cancer genomes are rearranged and how much these rearrangements contribute to the mutational burden of epithelial tumors. In particular, there are probably many fusion genes, analogous to those found in leukemias, to be found in common cancers, such as breast carcinoma, and some of these will prove to be important in cancer diagnosis and treatment.