Pan-cancer analysis of somatic copy-number alterations implicates IRS4 and IGF2 in enhancer hijacking

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

  • Joachim Weischenfeldt - , European Molecular Biology Laboratory (EMBL) Heidelberg, University of Copenhagen (Author)
  • Taronish Dubash - , German Cancer Research Center (DKFZ) (Author)
  • Alexandros P. Drainas - , European Molecular Biology Laboratory (EMBL) Heidelberg (Author)
  • Balca R. Mardin - , European Molecular Biology Laboratory (EMBL) Heidelberg (Author)
  • Yuanyuan Chen - , German Cancer Research Center (DKFZ) (Author)
  • Adrian M. Stütz - , European Molecular Biology Laboratory (EMBL) Heidelberg (Author)
  • Sebastian M. Waszak - , European Molecular Biology Laboratory (EMBL) Heidelberg (Author)
  • Graziella Bosco - , University of Cologne (Author)
  • Ann Rita Halvorsen - , University of Oslo (Author)
  • Benjamin Raeder - , European Molecular Biology Laboratory (EMBL) Heidelberg (Author)
  • Theocharis Efthymiopoulos - , European Molecular Biology Laboratory (EMBL) Heidelberg (Author)
  • Serap Erkek - , European Molecular Biology Laboratory (EMBL) Heidelberg, German Cancer Research Center (DKFZ) (Author)
  • Christine Siegl - , German Cancer Research Center (DKFZ) (Author)
  • Hermann Brenner - , German Cancer Research Center (DKFZ) (Author)
  • Odd Terje Brustugun - , University of Oslo (Author)
  • Sebastian M. Dieter - , German Cancer Research Center (DKFZ) (Author)
  • Paul A. Northcott - , St. Jude Children Research Hospital (Author)
  • Iver Petersen - , Friedrich Schiller University Jena (Author)
  • Stefan M. Pfister - , German Cancer Research Center (DKFZ) (Author)
  • Martin Schneider - , Heidelberg University  (Author)
  • Steinar K. Solberg - , University of Oslo (Author)
  • Erik Thunissen - , Vrije Universiteit Amsterdam (VU) (Author)
  • Wilko Weichert - , Technical University of Munich, University of Cologne, German Cancer Research Center (DKFZ) (Author)
  • Thomas Zichner - , European Molecular Biology Laboratory (EMBL) Heidelberg (Author)
  • Roman Thomas - , University of Cologne (Author)
  • Martin Peifer - , University of Cologne (Author)
  • Aslaug Helland - , University of Oslo (Author)
  • Claudia R. Ball - , National Center for Tumor Diseases (NCT) Heidelberg, German Cancer Consortium (DKTK) Core Center Heidelberg, German Cancer Research Center (DKFZ) (Author)
  • Martin Jechlinger - , European Molecular Biology Laboratory (EMBL) Heidelberg (Author)
  • Rocio Sotillo - , German Cancer Research Center (DKFZ) (Author)
  • Hanno Glimm - , National Center for Tumor Diseases (NCT) Heidelberg, German Cancer Consortium (DKTK) Core Center Heidelberg, German Cancer Research Center (DKFZ) (Author)
  • Jan O. Korbel - , European Molecular Biology Laboratory (EMBL) Heidelberg, Wellcome Trust (Author)

Abstract

Extensive prior research focused on somatic copy-number alterations (SCNAs) affecting cancer genes, yet the extent to which recurrent SCNAs exert their influence through rearrangement of cis-regulatory elements (CREs) remains unclear. Here we present a framework for inferring cancer-related gene overexpression resulting from CRE reorganization (e.g., enhancer hijacking) by integrating SCNAs, gene expression data and information on topologically associating domains (TADs). Analysis of 7,416 cancer genomes uncovered several pan-cancer candidate genes, including IRS4, SMARCA1 and TERT. We demonstrate that IRS4 overexpression in lung cancer is associated with recurrent deletions in cis, and we present evidence supporting a tumor-promoting role. We additionally pursued cancer-type-specific analyses and uncovered IGF2 as a target for enhancer hijacking in colorectal cancer. Recurrent tandem duplications intersecting with a TAD boundary mediate de novo formation of a 3D contact domain comprising IGF2 and a lineage-specific super-enhancer, resulting in high-level gene activation. Our framework enables systematic inference of CRE rearrangements mediating dysregulation in cancer.

Details

Original languageEnglish
Pages (from-to)65-74
Number of pages10
JournalNature genetics
Volume49
Issue number1
Publication statusPublished - 1 Jan 2017
Peer-reviewedYes
Externally publishedYes

External IDs

PubMed 27869826

Keywords

Sustainable Development Goals

ASJC Scopus subject areas