%0 Journal Article
%A Zhang, Yiqun
%A Chen, Fengju
%A Fonseca, Nuno A
%A He, Yao
%A Fujita, Masashi
%A Nakagawa, Hidewaki
%A Zhang, Zemin
%A Brazma, Alvis
%A PCAWGTranscriptomeWorkingGroup
%A PCAWGStructuralVariationWorkingGroup
%A Creighton, Chad J
%A PCAWGConsortium
%T High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations.
%J Nature Communications
%V 11
%N 1
%@ 2041-1723
%C [London]
%I Nature Publishing Group UK
%M DKFZ-2021-02564
%P 736
%D 2020
%Z siehe Correction: DKFZ Autoren affiliiert im PCAWG Consortium: https://inrepo02.dkfz.de/record/212439   /https://doi.org/10.1038/s41467-022-32333-w
%X The impact of somatic structural variants (SVs) on gene expression in cancer is largely unknown. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole-genome sequencing data and RNA sequencing from a common set of 1220 cancer cases, we report hundreds of genes for which the presence within 100 kb of an SV breakpoint associates with altered expression. For the majority of these genes, expression increases rather than decreases with corresponding breakpoint events. Up-regulated cancer-associated genes impacted by this phenomenon include TERT, MDM2, CDK4, ERBB2, CD274, PDCD1LG2, and IGF2. TERT-associated breakpoints involve  3
%K DNA Methylation
%K Databases, Genetic
%K Enhancer Elements, Genetic
%K Gene Expression Regulation, Neoplastic
%K Genes, Tumor Suppressor
%K Genomic Structural Variation
%K Humans
%K Neoplasms: genetics
%K Oncogenes
%K Regulatory Sequences, Nucleic Acid
%K Whole Genome Sequencing
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:32024823
%2 pmc:PMC7002524
%R 10.1038/s41467-019-13885-w
%U https://inrepo02.dkfz.de/record/177477