ArticleNature2016
Landscape of somatic mutations in 560 breast cancer whole-genome sequences.
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Article in Nature, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 1,370 papers, 1 of them a synthesis that pooled it.
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1,370citing papers in PubMed, 1 pooled it
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Who cites it
1,370 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genomic landscape of triple-negative breast cancer in South Asian populations: a systematic review.BMC cancer · 2026Pooled it
- Identifying Locally Recurrent Versus Second Primary Breast Cancer: Genomic Versus Clinical Criteria from Carolina Breast Cancer Study Phase III.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2026Trial
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- Neoadjuvant therapy with eribulin, doxorubicin and cyclophosphamide for patients with HER2-negative inflammatory breast cancer: a phase II study.Breast cancer research : BCR · 2025Trial
- FGFR4-associated APOBEC3 mutagenesis characterizes HER2-enriched subtype of human breast cancer.British journal of cancer · 2026Article
- Molecular predictors of minimal residual disease in newly diagnosed multiple myeloma treated with quadruplet therapy.Nature medicine · 2026Article
- Multi-Omics and Liquid Biopsy Integration for Precision Stratification of Breast Cancer.Cancers · 2026Review
- ESR1 mutations are associated with enhanced MTORC1 signaling in a context-dependent manner.Communications biology · 2026Article
- The BRCA1 coiled-coil domain is dispensable for suppression of tandem duplications and tolerance of FANCM loss.The EMBO journal · 2026Article
- Targeting the DNA Damage Response in Cancer.MedComm · 2026Review
- Actionable genetic landscape and dynamics in circulating DNA from 12,827 patients with metastatic breast cancer.Nature communications · 2026Article
- Replication stress in cancer: origins, consequences and therapeutic opportunities.Nature reviews. Cancer · 2026Review
- Clustered structural variant hotspots enable oncogenic addiction and plasticity in osteosarcoma.bioRxiv : the preprint server for biology · 2026Article
- Circulating Cell-Free DNA Methylation Profiling Enables Detection, Distinction, and Estrogen Receptor Status Classification of Advanced Breast Cancer.Cancer research · 2026Article
- The DNA damage response and cancer immunotherapy.Nature reviews. Cancer · 2026Review
- Integrating germline and tumor sequencing to improve hereditary cancer diagnosis and care.European journal of human genetics : EJHG · 2026Review
- Article
- Deconvolution of evolutionary architecture unmasks a high-risk, subclonal-rich subtype in treatment-naive small cell lung cancer.Journal of thoracic disease · 2026Article
- HisToSpatialCNV: an interpretable deep learning method predicting spatial copy number variations from histopathology images.Nature biomedical engineering · 2026Article
- Ionizing Radiation and Ultraviolet Light Irradiation-Associated DNA Damage Increasing Genomic Instability Risk.Cancer science · 2026Review
1,310 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
88 authors.
Serena Nik-ZainalWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Helen DaviesWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Johan StaafDivision of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund SE-223 81, Sweden.
Manasa RamakrishnaWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Dominik GlodzikWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Xueqing ZouWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Inigo MartincorenaWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Ludmil B AlexandrovWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Sancha MartinWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
David C WedgeWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Peter Van LooWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Young Seok JuWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Marcel SmidDepartment of Medical Oncology, Erasmus MC Cancer Institute and Cancer Genomics Netherlands, Erasmus University Medical Center, Rotterdam 3015CN, The Netherlands.
Arie B BrinkmanRadboud University, Department of Molecular Biology, Faculty of Science, 6525GA Nijmegen, The Netherlands.
Sandro MorganellaEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK.
Miriam R AureDepartment of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital, The Norwegian Radium Hospital, Oslo 0310, Norway.
Ole Christian LingjærdeK. G. Jebsen Centre for Breast Cancer Research, Institute for Clinical Medicine, University of Oslo, Oslo 0310, Norway.
Anita LangerødDepartment of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital, The Norwegian Radium Hospital, Oslo 0310, Norway.
Markus RingnérDivision of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund SE-223 81, Sweden.
Sung-Min AhnGachon Institute of Genome Medicine and Science, Gachon University Gil Medical Center, Incheon, South Korea.
Sandrine BoyaultTranslational Research Lab, Centre Léon Bérard, 28, rue Laënnec, 69373 Lyon Cedex 08, France.
Jane E BrockDepartment of Pathology, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.
Annegien BroeksThe Netherlands Cancer Institute, 1066 CX Amsterdam, The Netherlands.
Adam ButlerWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Christine DesmedtBreast Cancer Translational Research Laboratory, Université Libre de Bruxelles, Institut Jules Bordet, Bd de Waterloo 121, B-1000 Brussels, Belgium.
Luc DirixTranslational Cancer Research Unit, Center for Oncological Research, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
Serge DronovWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Aquila FatimaDana-Farber Cancer Institute, Boston, Massachusetts 02215, USA.
John A FoekensDepartment of Medical Oncology, Erasmus MC Cancer Institute and Cancer Genomics Netherlands, Erasmus University Medical Center, Rotterdam 3015CN, The Netherlands.
Moritz GerstungWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Gerrit K J HooijerDepartment of Pathology, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Se Jin JangDepartment of Pathology, Asan Medical Center, College of Medicine, Ulsan University, Ulsan, South Korea.
David R JonesWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Hyung-Yong KimDepartment of Pathology, College of Medicine, Hanyang University, Seoul 133-791, South Korea.
Tari A KingMemorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, New York 10065, USA.
Savitri KrishnamurthyMorgan Welch Inflammatory Breast Cancer Research Program and Clinic, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Boulevard., Houston, Texas 77030, USA.
Hee Jin LeeDepartment of Pathology, Asan Medical Center, College of Medicine, Ulsan University, Ulsan, South Korea.
Jeong-Yeon LeeInstitute for Bioengineering and Biopharmaceutical Research (IBBR), Hanyang University, Seoul, South Korea.
Yilong LiWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Stuart McLarenWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Andrew MenziesWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Ville MustonenWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Sarah O'MearaWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Iris PauportéInstitut National du Cancer, Research Division, Clinical Research Department, 52 avenue Morizet, 92513 Boulogne-Billancourt, France.
Xavier PivotUniversity Hospital of Minjoz, INSERM UMR 1098, Bd Fleming, Besançon 25000, France.
Colin A PurdiePathology Department, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK.
Keiran RaineWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Kamna RamakrishnanWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
F Germán Rodríguez-GonzálezDepartment of Medical Oncology, Erasmus MC Cancer Institute and Cancer Genomics Netherlands, Erasmus University Medical Center, Rotterdam 3015CN, The Netherlands.
Gilles RomieuOncologie Sénologie, ICM Institut Régional du Cancer, Montpellier, France.
Anieta M SieuwertsDepartment of Medical Oncology, Erasmus MC Cancer Institute and Cancer Genomics Netherlands, Erasmus University Medical Center, Rotterdam 3015CN, The Netherlands.
Peter T SimpsonThe University of Queensland, UQ Centre for Clinical Research and School of Medicine, Brisbane, Queensland 4029, Australia.
Rebecca ShepherdWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Lucy StebbingsWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Olafur A StefanssonCancer Research Laboratory, Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland.
Jon TeagueWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Stefania TommasiIRCCS Istituto Tumori "Giovanni Paolo II", Bari, Italy.
Isabelle TreilleuxDepartment of Pathology, Centre Léon Bérard, 28 rue Laënnec, 69373 Lyon Cédex 08, France.
Gert G Van den EyndenTranslational Cancer Research Unit, Center for Oncological Research, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
Peter VermeulenTranslational Cancer Research Unit, Center for Oncological Research, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
Anne Vincent-SalomonInstitut Curie, Paris Sciences Lettres University, Department of Pathology and INSERM U934, 26 rue d'Ulm, 75248 Paris Cedex 05, France.
Lucy YatesWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Carlos CaldasCancer Research UK Cambridge Institute, University of Cambridge, Li Ka Shing Centre, Robinson Way, Cambridge CB2 0RE, UK.
Laura van't VeerThe Netherlands Cancer Institute, 1066 CX Amsterdam, The Netherlands.
Andrew TuttBreast Cancer Now Research Unit, King's College London, London SE1 9RT, UK.
Stian KnappskogDepartment of Clinical Science, University of Bergen, 5020 Bergen, Norway.
Benita Kiat Tee TanNational Cancer Centre Singapore, 11 Hospital Drive, 169610, Singapore.
Jos JonkersThe Netherlands Cancer Institute, 1066 CX Amsterdam, The Netherlands.
Åke BorgDivision of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund SE-223 81, Sweden.
Naoto T UenoMorgan Welch Inflammatory Breast Cancer Research Program and Clinic, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Boulevard., Houston, Texas 77030, USA.
Christos SotiriouBreast Cancer Translational Research Laboratory, Université Libre de Bruxelles, Institut Jules Bordet, Bd de Waterloo 121, B-1000 Brussels, Belgium.
Alain ViariEquipe Erable, INRIA Grenoble-Rhône-Alpes, 655, Avenue de l'Europe, 38330 Montbonnot-Saint Martin, France.
P Andrew FutrealWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Peter J CampbellWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Paul N SpanDepartment of Radiation Oncology, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.
Steven Van LaereTranslational Cancer Research Unit, Center for Oncological Research, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
Sunil R LakhaniThe University of Queensland, UQ Centre for Clinical Research and School of Medicine, Brisbane, Queensland 4029, Australia.
Jorunn E EyfjordCancer Research Laboratory, Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland.
Alastair M ThompsonPathology Department, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK.
Ewan BirneyEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK.
Hendrik G StunnenbergRadboud University, Department of Molecular Biology, Faculty of Science, 6525GA Nijmegen, The Netherlands.
Marc J van de VijverDepartment of Pathology, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
John W M MartensDepartment of Medical Oncology, Erasmus MC Cancer Institute and Cancer Genomics Netherlands, Erasmus University Medical Center, Rotterdam 3015CN, The Netherlands.
Anne-Lise Børresen-DaleDepartment of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital, The Norwegian Radium Hospital, Oslo 0310, Norway.
Andrea L RichardsonDepartment of Pathology, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.
Gu KongDepartment of Pathology, College of Medicine, Hanyang University, Seoul 133-791, South Korea.
Gilles ThomasSynergie Lyon Cancer, Centre Léon Bérard, 28 rue Laënnec, Lyon Cedex 08, France.
Michael R StrattonWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4MTissue and Pathology CoreP50CA168504 · NCI · DANA-FARBER CANCER INST · PI MYLES A BROWN · 2013 to 2026
$30.1MCancer Research UK 16942Cancer Research UK 20952Chief Scientist OfficeEuropean Research Council 322737NCI NIH HHS P30 CA008748NCI NIH HHS P50 CA168504NCI NIH HHS P50 CA168504-02Wellcome Trust 077012Wellcome Trust 077012/Z/05/ZWellcome Trust 088177Wellcome Trust 098051Wellcome Trust 100183Wellcome Trust WT100183MA
Abstract
We analysed whole-genome sequences of 560 breast cancers to advance understanding of the driver mutations conferring clonal advantage and the mutational processes generating somatic mutations. We found that 93 protein-coding cancer genes carried probable driver mutations. Some non-coding regions exhibited high mutation frequencies, but most have distinctive structural features probably causing elevated mutation rates and do not contain driver mutations. Mutational signature analysis was extended to genome rearrangements and revealed twelve base substitution and six rearrangement signatures. Three rearrangement signatures, characterized by tandem duplications or deletions, appear associated with defective homologous-recombination-based DNA repair: one with deficient BRCA1 function, another with deficient BRCA1 or BRCA2 function, the cause of the third is unknown. This analysis of all classes of somatic mutation across exons, introns and intergenic regions highlights the repertoire of cancer genes and mutational processes operating, and progresses towards a comprehensive account of the somatic genetic basis of breast cancer.
Indexed as
Breast NeoplasmsCohort StudiesDNA Mutational AnalysisDNA, NeoplasmDNA ReplicationFemaleGenes, BRCA1Genes, BRCA2Genome, HumanGenomicsHumansMaleMutagenesisMutationMutation RateOncogenesDNA, Neoplasm
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