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Cancer Inform. 2012;11:15-27. doi: 10.4137/CIN.S8026. Epub 2011 Dec 21.

Evaluating translocation gene fusions by SNP array data.

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  • 1Lead Generation to Candidate Realization, Sanofi, Route 202-206, Bridgewater, NJ 08807 USA.


Somatic cell genetic alterations are a hallmark of tumor development and progression. Although various technologies have been developed and utilized to identify genetic aberrations, identifying genetic translocations at the chromosomal level is still a challenging task. High density SNP microarrays are useful to measure DNA copy number variation (CNV) across the genome. Utilizing SNP array data of cancer cell lines and patient samples, we evaluated the CNV and copy number breakpoints for several known fusion genes implicated in tumorigenesis. This analysis demonstrated the potential utility of SNP array data for the prediction of genetic aberrations via translocations based on identifying copy number breakpoints within the target genes. Genome-wide analysis was also performed to identify genes harboring copy number breakpoints across 820 cancer cell lines. Candidate oncogenes were identified that are linked to potential translocations in specific cancer cell lines.


SNP array; copy number breakpoint; copy number variation; translocation

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