Breakpoint analysis of transcriptional and genomic profiles performed by researchers at Stanford University uncovers novel gene fusions spanning multiple human cancer types.
Gene fusions represent an important class of cancer genes, created by rearrangements of the genome that bring together two different genes. Because they are unique to cancer cells, gene fusions are ideal diagnostic markers and therapeutic targets. While gene fusions were once thought restricted mainly to blood cancers, recent discoveries suggest they are more widespread. Now, an approach is developed for mining DNA microarray data to detect the tell-tale signatures of gene fusions, as “breakpoints” occurring within the encoding DNA or expressed transcripts. The approach was applied to a large collection of nearly 1,000 human cancer specimens. From this analysis, twelve new gene fusions occurring in diverse cancer types were discovered an verified. The researchers demonstrated that some of these rearrangements recur in other samples of the same cancer type (supporting a causal role) and that the cancers show dependency on the fusion for cancer cell growth. Notably, some of these fusions (e.g. CEP85L/ROS1 in angiosarcoma) represent the first for that cancer type and thus provide important new biological insight. Some are also good drug targets (including rearrangements of ROS1, RAF1, and CDK6 kinases), with clear implications for therapy.
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Cover image: Modifed image from a figure in the cited article.
References
Giacomini CP, Sun S, Varma S, Shain AH, Giacomini MM, et al. (2013) Breakpoint Analysis of Transcriptional and Genomic Profiles Uncovers Novel Gene Fusions Spanning Multiple Human Cancer Types. PLoS Genet 9(4): e1003464. DOI: 10.1371/journal.pgen.1003464.
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