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A somatic-mutationa...
A somatic-mutational process recurrently duplicates germline susceptibility loci and tissue-specific super-enhancers in breast cancers
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- Glodzik, Dominik (author)
- Wellcome Trust Sanger Institute
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- Morganella, Sandro (author)
- Wellcome Trust Sanger Institute
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- Davies, Helen R. (author)
- Wellcome Trust Sanger Institute
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- Simpson, Peter T (author)
- University of Queensland
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- Li, Yilong (author)
- Wellcome Trust Sanger Institute
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- Zou, Xueqing (author)
- Wellcome Trust Sanger Institute
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- Diez-Perez, Javier (author)
- Wellcome Trust Sanger Institute
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- Staaf, Johan (author)
- Lund 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
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- Alexandrov, Ludmil B. (author)
- Los Alamos National Laboratory,Wellcome Trust Sanger Institute
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- Smid, Marcel (author)
- Erasmus University Rotterdam,Erasmus University Medical Center
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- Brinkman, Arie B (author)
- Radboud University Nijmegen
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- Rye, Inga Hansine (author)
- Norwegian Radium Hospital,University of Oslo
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- Russnes, Hege (author)
- Norwegian Radium Hospital,University of Oslo
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- Raine, Keiran (author)
- Wellcome Trust Sanger Institute
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- Purdie, Colin A (author)
- Ninewells Hospital and Medical School
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- Lakhani, Sunil R. (author)
- University of Queensland,Royal Brisbane and Women's Hospital
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- Thompson, Alastair M (author)
- Ninewells Hospital and Medical School,University of Texas
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- Birney, Ewan (author)
- European Bioinformatics Institute
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- Stunnenberg, Hendrik G. (author)
- Erasmus University Rotterdam,Erasmus University Medical Center
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- van de Vijver, Marc J (author)
- Academic Medical Center of University of Amsterdam (AMC)
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- Martens, John W M (author)
- Erasmus University Medical Center,Erasmus University Rotterdam
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- Børresen-Dale, Anne-Lise (author)
- Norwegian Radium Hospital,University of Oslo
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- Richardson, Andrea L. (author)
- Brigham and Women's Hospital / Harvard Medical School,Dana-Farber Cancer Institute
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- Kong, Gu (author)
- Hanyang University
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- Viari, Alain (author)
- National Institute for Research in Computer Science and Control (INIRA),Centre Léon Bérard
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- Easton, Douglas (author)
- University of Cambridge
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- Evan, Gerard (author)
- University of Cambridge
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- Campbell, Peter J. (author)
- Wellcome Trust Sanger Institute
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- Stratton, Michael R. (author)
- Wellcome Trust Sanger Institute
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- Nik-Zainal, Serena (author)
- Cambridge University Hospitals NHS Foundation Trust,Wellcome Trust Sanger Institute
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(creator_code:org_t)
- 2017-01-23
- 2017
- English 8 s.
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 49:3, s. 341-348
- Related links:
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http://dx.doi.org/10...
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Abstract
Subject headings
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- 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
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Glodzik, Dominik
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Morganella, Sand ...
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Davies, Helen R.
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Simpson, Peter T
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Li, Yilong
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Zou, Xueqing
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show more...
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Diez-Perez, Javi ...
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Staaf, Johan
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Alexandrov, Ludm ...
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Smid, Marcel
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Brinkman, Arie B
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Rye, Inga Hansin ...
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Russnes, Hege
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Raine, Keiran
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Purdie, Colin A
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Lakhani, Sunil R ...
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Thompson, Alasta ...
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Birney, Ewan
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Stunnenberg, Hen ...
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van de Vijver, M ...
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Martens, John W ...
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Børresen-Dale, A ...
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Richardson, Andr ...
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Kong, Gu
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Viari, Alain
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Easton, Douglas
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Evan, Gerard
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Campbell, Peter ...
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Stratton, Michae ...
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Nik-Zainal, Sere ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
- Articles in the publication
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Nature Genetics
- By the university
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Lund University