Focal chromosomal copy number aberrations in cancer—Needles in a genome haystack

作者: Oscar Krijgsman , Beatriz Carvalho , Gerrit A. Meijer , Renske D.M. Steenbergen , Bauke Ylstra

DOI: 10.1016/J.BBAMCR.2014.08.001

关键词: GenomeGeneSingle geneCopy-number variationGenomicsHaystackBiologyCancerGeneticsCopy number aberration

摘要: The extent of focal chromosomal copy number aberrations (CNAs) in cancer has been uncovered through technical innovations, and this discovery critical for the identification new driver genes genomics projects such as TCGA ICGC. Unlike constitutive variations (CNVs), CNAs are result many selection events during evolution genomes. Therefore, it is possible that a single gene CNA gives tumor selective growth advantage. This concept instrumental genes. However, lack consensus definition; therefore, we propose one based on pragmatic considerations. We also describe different strategies to identify procedures distinguish them from large CNVs.

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