{"id":"W2608082925","doi":"10.1200/jco.2016.69.4935","title":"Prediction of Breast and Prostate Cancer Risks in Male <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Using Polygenic Risk Scores","year":2017,"lang":"en","type":"article","venue":"Journal of Clinical Oncology","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":181,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"NIH Office of the Director; Instituto de Salud Carlos III; European Social Fund; Medical Research Council; QIMR Berghofer Medical Research Institute; School of Medicine; National Institutes of Health; Universitätsklinikum Köln; KWF Kankerbestrijding; Fox Chase Cancer Center; Ministero dello Sviluppo Economico; Università degli Studi di Udine; Royal Marsden NHS Foundation Trust; Fondazione Italiana per la Ricerca sul Cancro; Hospices Civils de Lyon; National Health and Medical Research Council; Deutsche Krebshilfe; Medizinische Universität Wien; Medizinischen Hochschule Hannover; Universitair Medisch Centrum Groningen; Cancer Council Queensland; Leids Universitair Medisch Centrum; Centre Hospitalier Universitaire de Québec; Medical Center, University of Pittsburgh; Westfälische Wilhelms-Universität Münster; Centre National de la Recherche Scientifique; European Commission; Canadian Institutes of Health Research; Lietuvos Mokslo Taryba; Peter MacCallum Cancer Centre; Odense Universitetshospital; Universitair Ziekenhuis Gent; Aalborg Universitetshospital; Gentofte Hospital; Fondation ARC pour la Recherche sur le Cancer; Istituto Toscano Tumori; Harvard T.H. Chan School of Public Health; Hungarian Scientific Research Fund; Unicancer; General Secretariat for Research and Technology; Háskóli Íslands; Landspítali Háskólasjúkrahús; Erasmus Medisch Centrum; Ministerio de Economía y Competitividad; Ministero della Salute; University of Toronto; McGill University; Generalitat de Catalunya; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Soonchunhyang University; Universiteit Gent; Sapienza Università di Roma; National Breast Cancer Foundation; National Cancer Institute; Seoul National University; Institut Claudius Regaud; Ministério da Ciência, Tecnologia e Inovação; Ohio State University; Universiteit Leiden; Centre Léon Bérard; Government of Canada; Memorial Sloan-Kettering Cancer Center; Istituto Oncologico Veneto; Helsingin Yliopisto; Université Laval; Radboud Universitair Medisch Centrum; Universität Wien; Radboud Universiteit; Cancer Australia; Université de Lyon; Fonds Wetenschappelijk Onderzoek; Huntsman Cancer Institute; Cancer Research UK; Associazione Italiana per la Ricerca sul Cancro; Beckman Research Institute, City of Hope; Fondation du cancer du sein du Québec; Wellcome Trust; Deutsches Krebsforschungszentrum; Cancer Research Institute; Kansas Bioscience Authority; Dr. Ralph and Marian Falk Medical Research Trust; Institut Bergonié; Cancer Center, University of Kansas; Cancerfonden; Rigshospitalet; Ministère du Développement Économique, de l’Innovation et de l’Exportation; Fundación Mutua Madrileña; David F. and Margaret T. Grohne Family Foundation; Breast Cancer Research Foundation; University of Pittsburgh; Jewish General Hospital; National Institute for Health and Care Research; Aarhus Universitetshospital; Aalborg Universitet; Genome Canada; Creighton University; Institut Català de la Salut; Institut Gustave-Roussy; University of Pennsylvania; Fundación Cellex; Aarhus Universitet; College of Medicine, Seoul National University; Susan G. Komen for the Cure","keywords":"Medicine; Breast cancer; Prostate cancer; Polygenic risk score; Oncology; Lifetime risk; Mutation; Internal medicine; Prostate; Cancer; Genetics; Gene; Single-nucleotide polymorphism; Genotype; Biology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00149445,0.00009756278,0.000431421,0.00006704116,0.0001023611,0.00001994686,0.0001395789,0.000287711,0.000007161957],"category_scores_gemma":[0.0009199859,0.00008845864,0.00009603881,0.00003857852,0.0004982357,0.00002674828,0.00009317787,0.0003201659,1.333666e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007150966,"about_ca_system_score_gemma":0.0009709121,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005988888,"about_ca_topic_score_gemma":0.0007269382,"domain_scores_codex":[0.9982714,0.0002398325,0.001008706,0.0002106164,0.0001293069,0.0001401512],"domain_scores_gemma":[0.9973265,0.0001087886,0.001999929,0.0001951962,0.000252542,0.0001170329],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001048338,0.00008940285,0.8736722,0.00002183735,0.0001792448,0.00001817025,0.0001513295,0.0007948157,0.01802649,0.000003825279,0.0001781753,0.1058161],"study_design_scores_gemma":[0.003761914,0.001305776,0.9887694,0.00006598021,0.0001779487,0.0004172994,0.0001651515,0.0006395679,0.00327444,0.0001939175,0.001142299,0.00008638314],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9955525,0.00280804,0.0001279689,0.0004797795,0.0007000709,0.000129954,0.000108102,0.000001125729,0.00009247495],"genre_scores_gemma":[0.9915248,0.006276596,0.001589548,0.000109186,0.0004574404,0.000004737672,0.000003427758,0.00001238644,0.0000219374],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1150971,"threshold_uncertainty_score":0.3607239,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08794779622729612,"score_gpt":0.4295472766840866,"score_spread":0.3415994804567904,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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