Nature Communications (Feb 2020)

High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations

  • Yiqun Zhang,
  • Fengju Chen,
  • Nuno A. Fonseca,
  • Yao He,
  • Masashi Fujita,
  • Hidewaki Nakagawa,
  • Zemin Zhang,
  • Alvis Brazma,
  • PCAWG Transcriptome Working Group,
  • PCAWG Structural Variation Working Group,
  • Chad J. Creighton,
  • PCAWG Consortium

DOI
https://doi.org/10.1038/s41467-019-13885-w
Journal volume & issue
Vol. 11, no. 1
pp. 1 – 14

Abstract

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In this study the authors consider the structural variants (SVs) present within cancer cases of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. They report hundreds of genes, including known cancer-associated genes for which the nearby presence of a SV breakpoint is associated with altered expression.