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Published on: August 19, 2014
Focal chromosomal copy number aberrations in cancer-Needles in a genome haystack
Oscar Krijgsman1, Beatriz Carvalho1, Gerrit A Meijer1
1Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands.
Abstract:
The extent of focal chromosomal copy number aberrations (CNAs) in cancer has been uncovered through technical innovations, and this discovery has been critical for the identification of new cancer driver genes in genomics projects such as TCGA and ICGC. Unlike constitutive copy number variations (CNVs), focal CNAs are the result of many selection events during the evolution of cancer genomes. Therefore, it is possible that a single gene in a focal CNA gives the tumor a selective growth advantage. This concept has been instrumental in the discovery of new cancer driver genes. However, focal CNAs lack a consensus definition; therefore, we propose one based on pragmatic considerations. We also describe different strategies to identify focal CNAs and procedures to distinguish them from large CNAs and CNVs.
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