TY  - JOUR
AU  - Zhang, Yiqun
AU  - Chen, Fengju
AU  - Fonseca, Nuno A
AU  - He, Yao
AU  - Fujita, Masashi
AU  - Nakagawa, Hidewaki
AU  - Zhang, Zemin
AU  - Brazma, Alvis
AU  - PCAWGTranscriptomeWorkingGroup
AU  - PCAWGStructuralVariationWorkingGroup
AU  - Creighton, Chad J
AU  - PCAWGConsortium
TI  - High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations.
JO  - Nature Communications
VL  - 11
IS  - 1
SN  - 2041-1723
CY  - [London]
PB  - Nature Publishing Group UK
M1  - DKFZ-2021-02564
SP  - 736
PY  - 2020
N1  - siehe Correction: DKFZ Autoren affiliiert im PCAWG Consortium: https://inrepo02.dkfz.de/record/212439   /https://doi.org/10.1038/s41467-022-32333-w
AB  - 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
KW  - DNA Methylation
KW  - Databases, Genetic
KW  - Enhancer Elements, Genetic
KW  - Gene Expression Regulation, Neoplastic
KW  - Genes, Tumor Suppressor
KW  - Genomic Structural Variation
KW  - Humans
KW  - Neoplasms: genetics
KW  - Oncogenes
KW  - Regulatory Sequences, Nucleic Acid
KW  - Whole Genome Sequencing
LB  - PUB:(DE-HGF)16
C6  - pmid:32024823
C2  - pmc:PMC7002524
DO  - DOI:10.1038/s41467-019-13885-w
UR  - https://inrepo02.dkfz.de/record/177477
ER  -