{"id":"W2056893663","doi":"10.1093/jnci/djv036","title":"Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants","year":2015,"lang":"en","type":"article","venue":"JNCI Journal of the National Cancer Institute","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":566,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; Université de Montréal; McGill University; University Health Network; University of Toronto","funders":"Division of Cancer Epidemiology and Genetics, National Cancer Institute; Medical Research and Materiel Command; Medical Research Council; Ministero dello Sviluppo Economico; Agence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du Travail; Radboud Universitair Medisch Centrum; National Health and Medical Research Council; Oulun Yliopisto; Deutsche Krebshilfe; Medizinischen Hochschule Hannover; Norges Forskningsråd; Universitair Medisch Centrum Groningen; Centers for Disease Control and Prevention; Institut National Du Cancer; Leids Universitair Medisch Centrum; Associazione Italiana per la Ricerca sul Cancro; KWF Kankerbestrijding; Vetenskapsrådet; Stockholms Läns Landsting; Ligue Contre le Cancer; Kuopion Yliopistollinen Sairaala; Karolinska Institutet; Herlev Hospital; Canadian Institutes of Health Research; General Secretariat for Research and Technology; Sundhed og Sygdom, Det Frie Forskningsråd; Ministry of Education and Science of the Russian Federation; Bundesministerium für Bildung und Forschung; Ministerio de Economía y Competitividad; Deutsche Gesetzliche Unfallversicherung; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Russian Foundation for Basic Research; Ministère du Développement Économique, de l’Innovation et de l’Exportation; Lon V. Smith Foundation; Radboud Universiteit; Universiteit Leiden; Robert Bosch Stiftung; Fonds Wetenschappelijk Onderzoek; Cancerfonden; National Cancer Institute; Cancer Institute NSW; National Breast Cancer Foundation; European Commission; Academy of Finland; King's College London; Roswell Park Cancer Institute; National Institute for Health and Care Research; Cancer Research UK; Vrije Universiteit Amsterdam; Erasmus Universiteit Rotterdam; Memorial Sloan-Kettering Cancer Center; Fondation du cancer du sein du Québec; Genome Canada; Itä-Suomen Yliopisto; Agency for Science, Technology and Research; David F. and Margaret T. Grohne Family Foundation; Deutsches Krebsforschungszentrum; Cancer Council Victoria; California Department of Public Health; Fondation de France; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; University of Cambridge; Government of Canada; Helsingin ja Uudenmaan Sairaanhoitopiiri; Vanderbilt University; Génome Québec; Agence Nationale de la Recherche; U.S. Department of Health and Human Services; Mayo Clinic; Breast Cancer Research Foundation; Susan G. Komen for the Cure; U.S. Army; University of Westminster; Cancer Council Tasmania; Francis Crick Institute; Erasmus Medisch Centrum; National Institutes of Health; Vanderbilt-Ingram Cancer Center","keywords":"Breast cancer; Profiling (computer programming); Oncology; Computational biology; Internal medicine; Medicine; Biology; Cancer; Computer science","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":[0.002042921,0.000614077,0.0004713628,0.001311732,0.0002215173,0.0006162076,0.0003247719,0.0004524517,0.001192682],"category_scores_gemma":[0.008379879,0.000222874,0.0006209399,0.0009569318,0.0003917056,0.0002970279,0.0005167671,0.0005172954,0.0003135916],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002313085,"about_ca_system_score_gemma":0.0002374319,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001469963,"about_ca_topic_score_gemma":0.001686744,"domain_scores_codex":[0.998697,0.0006303984,0.00009101081,0.0002766952,0.0001964021,0.0001085147],"domain_scores_gemma":[0.9949473,0.002998748,0.001247733,0.0003476563,0.0002391534,0.0002195047],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002350047,0.00001670204,0.9898179,0.00001832927,0.0001838829,0.0001160877,0.00003357071,0.0009797426,0.001634984,0.00004618505,0.00006592167,0.006851617],"study_design_scores_gemma":[0.00003249317,0.0003354776,0.979941,0.00002944904,0.0003847127,0.001349675,0.000113147,0.01426993,0.001938914,0.001150082,0.0004352226,0.00001987079],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99547,0.0004010546,0.003373187,0.00007887877,0.000006824394,0.00002103642,0.0001756131,0.00002070874,0.0004526455],"genre_scores_gemma":[0.997654,0.0000946807,0.002013807,0.00001521994,0.000005774481,0.000007677045,0.0001309785,0.000003864489,0.00007394219],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002042921,"threshold_uncertainty_score":0.01080412,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03939028116209101,"score_gpt":0.3044424301916075,"score_spread":0.2650521490295165,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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