{"id":"W2593940628","doi":"10.1038/ng.3785","title":"Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer","year":2017,"lang":"en","type":"article","venue":"Nature Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":471,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia; Public Health Ontario; Simon Fraser University; McGill University; University Health Network; Hôpital du Saint-Sacrement; McGill University and Génome Québec Innovation Centre; Queen's University; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital; Centre Hospitalier de l’Université de Montréal; Université Laval; BC Cancer Agency; Royal Victoria Hospital; Centre hospitalier universitaire de Québec; University of Toronto","funders":"Medical Research and Materiel Command; National Institute of General Medical Sciences; National Human Genome Research Institute; National Institute of Mental Health; Erasmus Universitair Medisch Centrum Rotterdam; Instituto de Salud Carlos III; Sydney Medical School; Cancer Council Western Australia; Cancer Council NSW; Cancer Council Victoria; World Cancer Research Fund; European Social Fund; Medical Research Council; Cancer Center, University of Kansas; National Institutes of Health; Centre Léon Bérard; Hellenic Health Foundation; Freistaat Sachsen; Akershus Universitetssykehus; Liga Portuguesa Contra o Cancro; Mutuelle Générale de l'Education Nationale; Institut Gustave-Roussy; Ministero dello Sviluppo Economico; Agence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du Travail; Hospices Civils de Lyon; Cancer Council South Australia; Istituto Oncologico Veneto; Instituto Millenium; Institut National Du Cancer; Radboud Universitair Medisch Centrum; Oulun Yliopisto; National Health and Medical Research Council; Deutsche Krebshilfe; Universitair Medisch Centrum Groningen; Leids Universitair Medisch Centrum; Universitetet i Bergen; Karolinska Institutet; Associazione Italiana per la Ricerca sul Cancro; Fondation de France; Stavros Niarchos Foundation; Fisher Center for Alzheimer's Research Foundation; Peter MacCallum Cancer Centre; Kuopion Yliopistollinen Sairaala; Breast Cancer Campaign; Ministerstvo Zdravotnictví Ceské Republiky; Servicio Gallego de Salud; Institut Bergonié; Great Ormond Street Hospital for Children; Fonds Wetenschappelijk Onderzoek; Ministerio de Economía y Competitividad; Erasmus Medisch Centrum; Deutsche Gesetzliche Unfallversicherung; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; King's College London; Gentofte Hospital; Cancerfonden; Cancer Australia; Radboud Universiteit; Russian Foundation for Basic Research; Norges Forskningsråd; Stockholms Läns Landsting; Universiteit Maastricht; Vrije Universiteit Amsterdam; University of Western Sydney; Maastricht Universitair Medisch Centrum; National Heart, Lung, and Blood Institute; Ohio State University; Universiteit Leiden; University of Crete; Ministero della Salute; Institut National de la Santé et de la Recherche Médicale; Medisinske fakultet, Universitetet i Oslo; Hunter Medical Research Institute; Deutscher Akademischer Austauschdienst; Robert Bosch Stiftung; Istituto Toscano Tumori; Trinity College Dublin; Agency for Science, Technology and Research; Centers for Disease Control and Prevention; Jewish General Hospital; National Institute for Health and Care Research; University of Queensland; Hungarian Scientific Research Fund; Cancer Association of South Africa; Medizinischen Hochschule Hannover; Cancer Institute NSW; Canadian Institutes of Health Research; Lietuvos Mokslo Taryba; European Commission; Deutsches Krebsforschungszentrum; University of Aberdeen; QIMR Berghofer Medical Research Institute; Fondation du cancer du sein du Québec; Génome Québec; Universitetet i Oslo; University of Nottingham; Calvary Mater Newcastle; Nottingham University Hospitals NHS Trust; National Breast Cancer Foundation; National Institute of Environmental Health Sciences; Swedish Cancer Foundation; Université Laval; Royal Marsden NHS Foundation Trust; Lon V. Smith Foundation; Vlaamse regering; Fundación Mutua Madrileña; Haukeland Universitetssjukehus; Ministère du Développement Économique, de l’Innovation et de l’Exportation; University of Southampton; Cancer Research UK; Agence Nationale de la Recherche; Wellcome Trust; David F. and Margaret T. Grohne Family Foundation; Breast Cancer Research Foundation; Generalitat de Catalunya; Univerzita Karlova v Praze; Kansas Bioscience Authority; Xunta de Galicia; Israel Cancer Association; Dr. Ralph and Marian Falk Medical Research Trust; University Hospitals of Leicester NHS Trust; National Center for Advancing Translational Sciences; Francis Crick Institute; Bundesministerium für Bildung und Forschung; Ovarian Cancer Research Fund; Odense Universitetshospital; Central Manchester University Hospitals NHS Foundation Trust; National Cancer Institute; European Regional Development Fund; Ministerio de Sanidad, Servicios Sociales e Igualdad; Government of Canada; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; Norges Teknisk-Naturvitenskapelige Universitet; Centre Hospitalier Universitaire de Québec; Cancer Council Tasmania; Itä-Suomen Yliopisto; Genome Canada; Institut Català de la Salut; Newcastle upon Tyne Hospitals NHS Foundation Trust; Creighton University; Institut Claudius Regaud; California Department of Public Health; Sundhed og Sygdom, Det Frie Forskningsråd; University of Washington; Massachusetts Institute of Technology; University of Toronto; University of California, San Francisco; Universitetet i Tromsø; Susan G. Komen for the Cure","keywords":"Biology; Breast cancer; Estrogen receptor; Identification (biology); Genetics; Estrogen; Estrogen receptor beta; Estrogen receptor alpha; Oncology; Internal medicine; Cancer; Computational biology; Bioinformatics; Medicine","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004981803,0.000610914,0.0005032608,0.002078128,0.0006007024,0.0006327973,0.0006128857,0.0007887302,0.00270955],"category_scores_gemma":[0.00199822,0.0002794552,0.0005649767,0.001769388,0.0004318107,0.0001694445,0.0004718672,0.0004392052,0.0003148348],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003478792,"about_ca_system_score_gemma":0.0003402483,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003788753,"about_ca_topic_score_gemma":0.004975847,"domain_scores_codex":[0.9993644,0.0001083166,0.0001157281,0.0001462561,0.000149591,0.0001156813],"domain_scores_gemma":[0.9985423,0.0005980712,0.0003718223,0.00008186514,0.0001240286,0.0002818816],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004107496,0.0002554218,0.8450837,0.0001720752,0.0007111242,0.01323237,0.0005621709,0.0009932588,0.1101683,0.0008831598,0.0007776029,0.02305323],"study_design_scores_gemma":[0.0001889829,0.0005179864,0.9551694,0.00008608603,0.0006163781,0.01702346,0.000293023,0.00187926,0.01984479,0.0007825394,0.003542247,0.00005592293],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99752,0.0004461299,0.0006385698,0.00006414751,0.00001772321,0.00001611384,0.0005492307,0.00001862691,0.0007293691],"genre_scores_gemma":[0.9982646,0.0001017778,0.000760633,0.00004028413,0.00001057207,0.000008195754,0.000469972,0.00001065636,0.0003332782],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003788753,"threshold_uncertainty_score":0.009064317,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006093645637319349,"score_gpt":0.2768076887393459,"score_spread":0.2707140431020265,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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