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Curr Opin Genet Dev. 2008 Feb;18(1):68-72. doi: 10.1016/j.gde.2008.01.005. Epub 2008 Mar 12.

High-content analysis of cancer genome DNA alterations.

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  • 1Translational Medicine, GlaxoSmithKline, King of Prussia, PA 19406, USA.


New technologies as well as concerted brute-force approaches have increased the content (number of genes) that can be characterized for genomic DNA alterations. Recent advances include the detection of activating point mutations in key kinase genes (BRAF, EGFR, and PIK3CA) in multiple cancer types: preliminary insight into the entire repertoire of genes that can be mutated in cancer; the discovery of new oncogenes by high-resolution profiling of DNA copy number alterations; and the bioinformatic-driven discovery of oncogenic gene fusions. High-content promoter methylation detection systems have been used to discover additional methylated genes and have provided evidence for a stem cell origin for certain tumors. Some of these advances have had significant impact on the development and clinical testing of new therapeutics.

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