Distinguishes Aneuploidy from Proliferation

[PMID:28320919] [Genome Research]

Pan-cancer analysis distinguishes transcriptional changes of aneuploidy from proliferation

“Expression signatures have been widely used as markers for genomic instability, and bothsomatic copy number alterations (SCNAs) and point mutations (PMs) could be thought to associate with distinct signatures given their different formation mechanisms. Here we test this notion by systematically investigating SCNA, PM, and transcriptome data from 2660 cancer patients representing 11 tumor types.” “Gene sets related to cell growth and proliferation generally associated positively, and immunoregulatory gene sets negatively, with variant burden.” “Our results suggest that overexpression of cell-cycle–related genes are a characteristic of proliferation, and likely tumor evolution, rather than ongoing genomic instability.”

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