{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001820741,0.0001306989,0.0001596748,0.00003485166,0.0001256798,0.00002049583,0.0003945083,0.0003502838,0.00002097291],"category_scores_gemma":[0.0002771183,0.0001162533,0.00005999553,0.00008055956,0.0002297786,0.000005025699,0.00008493564,0.0001815068,0.000001189742],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004695461,"about_ca_system_score_gemma":0.0002752714,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005666077,"about_ca_topic_score_gemma":0.0001687264,"domain_scores_codex":[0.9990663,0.00005363782,0.000243534,0.0002766302,0.0002183339,0.0001415928],"domain_scores_gemma":[0.9977694,0.00001532138,0.0008286339,0.0006798994,0.0006677608,0.00003900341],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0002033485,0.0001481173,0.4382024,0.00003117976,0.0009653291,6.222612e-7,0.0002404165,0.001478256,0.549844,0.00004204488,0.001760521,0.007083746],"study_design_scores_gemma":[0.0004458754,0.00006541045,0.505913,0.0000246228,0.0001003352,0.000001833838,0.00002607886,0.0001001604,0.4929968,0.00008411764,0.0001439756,0.00009781767],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960326,0.00122411,0.0003426262,0.0001104242,0.0003582622,0.0001863847,0.001573556,0.000004616058,0.0001674517],"genre_scores_gemma":[0.9974912,0.000644729,0.001349135,0.00002356073,0.0001748001,0.00002215503,0.0000762374,0.00002496098,0.0001931639],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06771062,"threshold_uncertainty_score":0.474067,"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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