{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003311582,0.0001056714,0.0001286925,0.00007660734,0.00007740927,0.00001241437,0.0002568596,0.00007298067,0.00001236059],"category_scores_gemma":[0.0000970075,0.00007046739,0.00007574748,0.000192486,0.0001178476,0.00001628149,0.00002996392,0.0001709543,4.745171e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003957217,"about_ca_system_score_gemma":0.002607262,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001073354,"about_ca_topic_score_gemma":0.000186572,"domain_scores_codex":[0.9987187,0.00007162688,0.0003098285,0.0001308339,0.00066921,0.00009982357],"domain_scores_gemma":[0.9980304,0.00001224869,0.0005683908,0.00013946,0.001186053,0.00006343408],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"simulation_or_modeling","study_design_gemma":"observational","study_design_scores_codex":[0.000868629,0.00008958152,0.09729394,0.00001814353,0.0001929149,0.000001372495,0.00004813294,0.8771276,0.01825564,0.00003873853,0.004251854,0.001813498],"study_design_scores_gemma":[0.007738042,0.001130201,0.7345409,0.0006299177,0.0004742898,0.0003752364,0.0000692979,0.02161274,0.2101415,0.0007574201,0.02211391,0.0004165795],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9920202,0.0006198356,0.002266564,0.001095542,0.002113495,0.0002074561,0.001020256,0.000003728983,0.0006529547],"genre_scores_gemma":[0.9961416,0.0001098422,0.002142899,0.0003866337,0.001116527,0.0000241994,0.00001101369,0.00001381518,0.00005347258],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8555148,"threshold_uncertainty_score":0.4625171,"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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