{"id":"W3022788208","doi":"10.1093/jnci/djaa056","title":"Combined Associations of a Polygenic Risk Score and Classical Risk Factors With Breast Cancer Risk","year":2020,"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":74,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; Queen's University; Lunenfeld-Tanenbaum Research Institute; University of Toronto; Mount Sinai Hospital","funders":"Medical Research and Materiel Command; National Heart, Lung, and Blood Institute; Servicio Gallego de Salud; Universitätsklinikum Hamburg-Eppendorf; Programme Grants for Applied Research; Instituto de Salud Carlos III; Cancer Council Tasmania; National Health and Medical Research Council; World Cancer Research Fund; Medical Research Council; Canadian Institutes of Health Research; National Institute of Environmental Health Sciences; U.S. Army; National Institutes of Health; Hellenic Health Foundation; Deutschen Konsortium für Translationale Krebsforschung; Xunta de Galicia; Institut Gustave-Roussy; Centers for Disease Control and Prevention; Institut National Du Cancer; Deutsche Krebshilfe; Swedish Cancer Foundation; Agence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du Travail; Vetenskapsrådet; KU Leuven; Rheinische Friedrich-Wilhelms-Universität Bonn; Government of Canada; University of Cambridge; Ministerio de Sanidad, Servicios Sociales e Igualdad; Bundesministerium für Bildung und Forschung; Ovarian Cancer Research Fund; Ministerio de Economía y Competitividad; Institut National de la Santé et de la Recherche Médicale; Cancer Australia; Agence Nationale de la Recherche; Agency for Science, Technology and Research; Cancer Council South Australia; Fonds Wetenschappelijk Onderzoek; Cancerfonden; National Cancer Institute; Cancer Institute NSW; National Breast Cancer Foundation; McGill University; Breast Cancer Research Foundation; Cancer Research UK; Fondation de France; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; Deutsche Forschungsgemeinschaft; Deutsche Gesetzliche Unfallversicherung; Gentofte Hospital; Division of Cancer Prevention, National Cancer Institute; National Institute for Health and Care Research; Associazione Italiana per la Ricerca sul Cancro; Genome Canada; Lon V. Smith Foundation; Fondation du cancer du sein du Québec; David F. and Margaret T. Grohne Family Foundation; Ligue Contre le Cancer; Deutsches Krebsforschungszentrum; Sundhed og Sygdom, Det Frie Forskningsråd; National Human Genome Research Institute; Cancer Council Victoria; California Department of Public Health; U.S. Department of Health and Human Services; Mayo Clinic; Cancer Council Western Australia; European Commission; Stavros Niarchos Foundation; Cancer Council NSW; Susan G. Komen for the Cure","keywords":"Breast cancer; Medicine; Logistic regression; Odds ratio; Demography; Risk factor; Oncology; Risk factors for breast cancer; Family history; Gynecology; Internal medicine; Cancer; Statistics; Mathematics","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":[0.001643836,0.0004779106,0.0004867309,0.001208611,0.0003069932,0.0005443134,0.0004021301,0.000420538,0.001770725],"category_scores_gemma":[0.00539612,0.0002361777,0.0007715148,0.001275792,0.0004448735,0.0002731971,0.0006007728,0.0004692198,0.0001863664],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001877346,"about_ca_system_score_gemma":0.0002487705,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003658751,"about_ca_topic_score_gemma":0.005097612,"domain_scores_codex":[0.9983925,0.0008201121,0.00009476002,0.0002956703,0.0002672624,0.0001296204],"domain_scores_gemma":[0.9963033,0.001784942,0.0006765399,0.0006185373,0.0002419961,0.0003746162],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003261801,0.00002100482,0.9951531,0.000006708342,0.0004150011,0.00010422,0.00002728657,0.0002571839,0.001051082,0.00005562448,0.00004542622,0.002537169],"study_design_scores_gemma":[0.000009707067,0.0001091993,0.9975212,0.000001990875,0.0001322737,0.000336582,0.0000253072,0.001428783,0.0001749592,0.0001499523,0.0001038455,0.000006157266],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985368,0.0001819106,0.000777716,0.00003091281,0.000004358888,0.000005338574,0.000183315,0.00001249351,0.0002669864],"genre_scores_gemma":[0.9993104,0.00003113789,0.0003624725,0.000006400732,0.000006409063,0.000003161866,0.0001662457,0.000003564403,0.0001101793],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003658751,"threshold_uncertainty_score":0.008693516,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03205799915463377,"score_gpt":0.2974915048595682,"score_spread":0.2654335057049345,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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