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The topography of m...
The topography of mutational processes in breast cancer genomes
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- Morganella, Sandro (author)
- European Bioinformatics Institute
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- Alexandrov, Ludmil B. (author)
- Los Alamos National Laboratory
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- Glodzik, Dominik (author)
- Wellcome Trust Sanger Institute
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- Zou, Xueqing (author)
- Wellcome Trust Sanger Institute
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- Davies, Helen (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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- Sieuwerts, Anieta M. (author)
- Erasmus University Medical Center
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- Brinkman, Arie B. (author)
- Radboud University Nijmegen
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- Martin, Sancha (author)
- Wellcome Trust Sanger Institute
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- Ramakrishna, Manasa (author)
- Wellcome Trust Sanger Institute
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- Butler, Adam (author)
- Wellcome Trust Sanger Institute
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- Kim, Hyung Yong (author)
- Hanyang University
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- Borg, Åke (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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- Sotiriou, Christos (author)
- Institut Jules Bordet
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- Futreal, P. Andrew (author)
- University of Texas
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- Campbell, Peter J. (author)
- Wellcome Trust Sanger Institute
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- Span, Paul N. (author)
- Radboud University Nijmegen
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- Van Laere, Steven (author)
- University of Antwerp
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- Lakhani, Sunil R. (author)
- Royal Brisbane and Women's Hospital
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- Eyfjord, Jorunn E. (author)
- University of Iceland
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- Thompson, Alastair M. (author)
- Ninewells Hospital and Medical School
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- Stunnenberg, Hendrik G. (author)
- Radboud University Nijmegen
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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
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- Børresen-Dale, Anne Lise (author)
- University of Oslo
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- Richardson, Andrea L. (author)
- Dana-Farber Cancer Institute
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- Kong, Gu (author)
- Hanyang University
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- Thomas, Gilles (author)
- Centre Léon Bérard
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- Sale, Julian (author)
- MRC Laboratory of Molecular Biology
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- Rada, Cristina (author)
- MRC Laboratory of Molecular Biology
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- Stratton, Michael R. (author)
- Wellcome Trust Sanger Institute
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- Birney, Ewan (author)
- European Bioinformatics Institute
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- Nik-Zainal, Serena (author)
- Cambridge University Hospitals NHS Foundation Trust
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(creator_code:org_t)
- 2016-05-02
- 2016
- English.
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
- Related links:
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http://dx.doi.org/10... (free)
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https://www.nature.c...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Somatic mutations in human cancers show unevenness in genomic distribution that correlate with aspects of genome structure and function. These mutations are, however, generated by multiple mutational processes operating through the cellular lineage between the fertilized egg and the cancer cell, each composed of specific DNA damage and repair components and leaving its own characteristic mutational signature on the genome. Using somatic mutation catalogues from 560 breast cancer whole-genome sequences, here we show that each of 12 base substitution, 2 insertion/deletion (indel) and 6 rearrangement mutational signatures present in breast tissue, exhibit distinct relationships with genomic features relating to transcription, DNA replication and chromatin organization. This signature-based approach permits visualization of the genomic distribution of mutational processes associated with APOBEC enzymes, mismatch repair deficiency and homologous recombinational repair deficiency, as well as mutational processes of unknown aetiology. Furthermore, it highlights mechanistic insights including a putative replication-dependent mechanism of APOBEC-related mutagenesis.
Subject headings
- 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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Morganella, Sand ...
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Alexandrov, Ludm ...
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Glodzik, Dominik
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Zou, Xueqing
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Davies, Helen
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Staaf, Johan
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show more...
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Sieuwerts, Aniet ...
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Brinkman, Arie B ...
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Martin, Sancha
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Ramakrishna, Man ...
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Butler, Adam
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Kim, Hyung Yong
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Borg, Åke
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Sotiriou, Christ ...
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Futreal, P. Andr ...
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Campbell, Peter ...
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Span, Paul N.
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Van Laere, Steve ...
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Lakhani, Sunil R ...
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Eyfjord, Jorunn ...
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Thompson, Alasta ...
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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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Thomas, Gilles
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Sale, Julian
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Rada, Cristina
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Stratton, Michae ...
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Birney, Ewan
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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 Clinical Medicin ...
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and Cancer and Oncol ...
- Articles in the publication
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Nature Communica ...
- By the university
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Lund University