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  • Glodzik, DominikWellcome Trust Sanger Institute (author)

A somatic-mutational process recurrently duplicates germline susceptibility loci and tissue-specific super-enhancers in breast cancers

  • Article/chapterEnglish2017

Publisher, publication year, extent ...

  • 2017-01-23
  • Springer Science and Business Media LLC,2017
  • 8 s.

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:dee3611f-7ac5-404e-89d8-f6c6eaf30607
  • https://lup.lub.lu.se/record/dee3611f-7ac5-404e-89d8-f6c6eaf30607URI
  • https://doi.org/10.1038/ng.3771DOI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • Somatic rearrangements contribute to the mutagenized landscape of cancer genomes. Here, we systematically interrogated rearrangements in 560 breast cancers by using a piecewise constant fitting approach. We identified 33 hotspots of large (>100 kb) tandem duplications, a mutational signature associated with homologous-recombination-repair deficiency. Notably, these tandem-duplication hotspots were enriched in breast cancer germline susceptibility loci (odds ratio (OR) = 4.28) and breast-specific 'super-enhancer' regulatory elements (OR = 3.54). These hotspots may be sites of selective susceptibility to double-strand-break damage due to high transcriptional activity or, through incrementally increasing copy number, may be sites of secondary selective pressure. The transcriptomic consequences ranged from strong individual oncogene effects to weak but quantifiable multigene expression effects. We thus present a somatic-rearrangement mutational process affecting coding sequences and noncoding regulatory elements and contributing a continuum of driver consequences, from modest to strong effects, thereby supporting a polygenic model of cancer development.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Morganella, SandroWellcome Trust Sanger Institute (author)
  • Davies, Helen R.Wellcome Trust Sanger Institute (author)
  • Simpson, Peter TUniversity of Queensland (author)
  • Li, YilongWellcome Trust Sanger Institute (author)
  • Zou, XueqingWellcome Trust Sanger Institute (author)
  • Diez-Perez, JavierWellcome Trust Sanger Institute (author)
  • Staaf, JohanLund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)onk-jst (author)
  • Alexandrov, Ludmil B.Wellcome Trust Sanger Institute,Los Alamos National Laboratory (author)
  • Smid, MarcelErasmus University Rotterdam,Erasmus University Medical Center (author)
  • Brinkman, Arie BRadboud University Nijmegen (author)
  • Rye, Inga HansineNorwegian Radium Hospital,University of Oslo (author)
  • Russnes, HegeNorwegian Radium Hospital,University of Oslo (author)
  • Raine, KeiranWellcome Trust Sanger Institute (author)
  • Purdie, Colin ANinewells Hospital and Medical School (author)
  • Lakhani, Sunil R.Royal Brisbane and Women's Hospital,University of Queensland (author)
  • Thompson, Alastair MNinewells Hospital and Medical School,University of Texas (author)
  • Birney, EwanEuropean Bioinformatics Institute (author)
  • Stunnenberg, Hendrik G.Erasmus University Rotterdam,Erasmus University Medical Center (author)
  • van de Vijver, Marc JAcademic Medical Center of University of Amsterdam (AMC) (author)
  • Martens, John W MErasmus University Medical Center,Erasmus University Rotterdam (author)
  • Børresen-Dale, Anne-LiseNorwegian Radium Hospital,University of Oslo (author)
  • Richardson, Andrea L.Brigham and Women's Hospital / Harvard Medical School,Dana-Farber Cancer Institute (author)
  • Kong, GuHanyang University (author)
  • Viari, AlainCentre Léon Bérard,National Institute for Research in Computer Science and Control (INIRA) (author)
  • Easton, DouglasUniversity of Cambridge (author)
  • Evan, GerardUniversity of Cambridge (author)
  • Campbell, Peter J.Wellcome Trust Sanger Institute (author)
  • Stratton, Michael R.Wellcome Trust Sanger Institute (author)
  • Nik-Zainal, SerenaCambridge University Hospitals NHS Foundation Trust,Wellcome Trust Sanger Institute (author)
  • Wellcome Trust Sanger InstituteUniversity of Queensland (creator_code:org_t)

Related titles

  • In:Nature Genetics: Springer Science and Business Media LLC49:3, s. 341-3481061-40361546-1718

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