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

Research output: Contribution to journalJournal articleResearchpeer-review

  • Taronish Dubash
  • Alexandros P Drainas
  • Balca R Mardin
  • Yuanyuan Chen
  • Adrian M Stütz
  • Sebastian M Waszak
  • Graziella Bosco
  • Ann Rita Halvorsen
  • Benjamin Raeder
  • Theocharis Efthymiopoulos
  • Serap Erkek
  • Christine Siegl
  • Hermann Brenner
  • Odd Terje Brustugun
  • Sebastian M Dieter
  • Paul A Northcott
  • Iver Petersen
  • Stefan M Pfister
  • Martin Schneider
  • Steinar K Solberg
  • Erik Thunissen
  • Wilko Weichert
  • Thomas Zichner
  • Roman Thomas
  • Martin Peifer
  • Aslaug Helland
  • Claudia R Ball
  • Martin Jechlinger
  • Rocio Sotillo
  • Hanno Glimm
  • Jan O Korbel

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.

Original languageEnglish
JournalNature Genetics
Volume49
Issue number1
Pages (from-to)65-74
Number of pages10
ISSN1061-4036
DOIs
Publication statusPublished - 2017

ID: 174655425