Global analysis of somatic structural genomic alterations and their impact on gene expression in diverse human cancers.

ABSTRACT: Tumor genomes are mosaics of somatic structural variants (SVs) that may contribute to the activation of oncogenes or inactivation of tumor suppressors, for example, by altering gene copy number amplitude. However, there are multiple other ways in which SVs can modulate transcription, but the general impact of such events on tumor transcriptional output has not been systematically determined. Here we use whole-genome sequencing data to map SVs across 600 tumors and 18 cancers, and investigate the relationship between SVs, copy number alterations (CNAs), and mRNA expression. We find that 34% of CNA breakpoints can be clarified structurally and that most amplifications are due to tandem duplications. We observe frequent swapping of strong and weak promoters in the context of gene fusions, and

SUBMITTER: Alaei-Mahabadi B 

PROVIDER: S-EPMC5137778 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature