{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001844049,0.0007602901,0.0004040672,0.001376842,0.0002225021,0.0006046881,0.0003385296,0.0003000057,0.001232818],"category_scores_gemma":[0.004649343,0.0002633214,0.0009024634,0.0008395279,0.0002672829,0.0002684032,0.0006004594,0.0004015126,0.000188384],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001719689,"about_ca_system_score_gemma":0.0001780513,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004040875,"about_ca_topic_score_gemma":0.005058112,"domain_scores_codex":[0.9988489,0.0004919925,0.00006951376,0.0003358883,0.0001785877,0.00007507583],"domain_scores_gemma":[0.9976336,0.0009128178,0.0009028338,0.0002629637,0.0001261138,0.0001618494],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002442054,0.00001746229,0.9872515,0.0000158865,0.0003741905,0.00006196731,0.00004662716,0.0008041298,0.002226374,0.00009531499,0.0001063723,0.008755934],"study_design_scores_gemma":[0.00002016901,0.0002170509,0.9887911,0.00001051884,0.0003190447,0.0004641283,0.00005150491,0.008184944,0.001132241,0.0004822621,0.0003104689,0.00001656577],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.993676,0.0003394706,0.005120113,0.00005322285,0.000006712153,0.00001622957,0.0003701409,0.00004223867,0.0003756998],"genre_scores_gemma":[0.9967512,0.0001158528,0.002609413,0.00002057979,0.00001237921,0.000007623665,0.000314526,0.00001183131,0.000156632],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004040875,"threshold_uncertainty_score":0.009752393,"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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