{"id":"W2593642799","doi":"10.1093/jnci/djw302","title":"Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers","year":2016,"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":348,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; Centre hospitalier universitaire de Québec","funders":"Jonsson Comprehensive Cancer Center; National Center for Advancing Translational Sciences; lékařská fakulta Univerzity Karlovy; National Institutes of Health; National Cancer Institute; Liga Portuguesa Contra o Cancro; Ministero dello Sviluppo Economico; Medical Research Council; Uppsala Universitet; Deutsche Krebshilfe; Sahlgrenska Universitetssjukhuset; Universitair Medisch Centrum Groningen; Institut National Du Cancer; Leids Universitair Medisch Centrum; KWF Kankerbestrijding; Lietuvos Mokslo Taryba; University of California, San Francisco; Universiteit Gent; Peter MacCallum Cancer Centre; Lunds Universitet; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Ministero della Salute; Norway Grants; Generalitat de Catalunya; American Cancer Society; Fonds Wetenschappelijk Onderzoek; Cancer Center, University of Kansas; Cancerfonden; Pomorski Uniwersytet Medyczny W Szczecinie; Vrije Universiteit Amsterdam; Rijksuniversiteit Groningen; Maastricht Universitair Medisch Centrum; Ministério da Ciência, Tecnologia e Inovação; Universiteit Leiden; Istituto Toscano Tumori; Cancer Association of South Africa; Universidade do Porto; National Breast Cancer Foundation; National Institute for Health and Care Research; Cancer Research UK; Canadian Breast Cancer Research Alliance; Hungarian Scientific Research Fund; Francis Crick Institute; Cedars-Sinai Medical Center; Israel Cancer Association; Institut Català de la Salut; University of Pennsylvania; Radboud Universiteit; Ministère du Développement Économique, de l’Innovation et de l’Exportation; David F. and Margaret T. Grohne Family Foundation; Breast Cancer Research Foundation; Univerzita Karlova v Praze; Clalit Health Services; Deutsches Krebsforschungszentrum; Erasmus Universitair Medisch Centrum Rotterdam; European Commission; Istituto Oncologico Veneto; Royal Marsden NHS Foundation Trust; Helsingin Yliopisto; NRG Oncology; USC Norris Comprehensive Cancer Center; Memorial Sloan-Kettering Cancer Center; Dr. Ralph and Marian Falk Medical Research Trust; Kansas Bioscience Authority; Georgetown University; Susan G. Komen for the Cure; Canadian Institutes of Health Research; General Secretariat for Research and Technology; Beth Israel Deaconess Medical Center; Fundació Institut de Recerca Hospital Universitari Vall d’Hebron; University of Hong Kong; European Regional Development Fund; Jess and Mildred Fisher Center for Familial Cancer Research; Instituto de Salud Carlos III; Ohio State University; Cancer Australia; Háskóli Íslands; Landspítali Háskólasjúkrahús; Ovarian Cancer Research Fund; National Health and Medical Research Council; Jewish General Hospital; Fisher Center for Alzheimer's Research Foundation; European Social Fund; University of Chicago","keywords":"Polygenic risk score; Ovarian cancer; Oncology; Breast cancer; Mutation; Medicine; Internal medicine; Cancer; Biology; Genetics; Gene; Genotype; Single-nucleotide polymorphism","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":[0.01180349,0.001190085,0.0007036046,0.002815439,0.0003770374,0.0009055907,0.0008122448,0.0006765076,0.002216922],"category_scores_gemma":[0.02357391,0.0002916814,0.002291318,0.001734751,0.000482055,0.0004582496,0.001023493,0.0008132666,0.0002576667],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004970192,"about_ca_system_score_gemma":0.0006304982,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004948587,"about_ca_topic_score_gemma":0.003500735,"domain_scores_codex":[0.9964836,0.002241114,0.0001983975,0.0006348406,0.0002792386,0.0001628189],"domain_scores_gemma":[0.9780381,0.01579219,0.003231777,0.001571288,0.0008046774,0.0005619574],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001206837,0.0001141374,0.9753836,0.00003532419,0.001360296,0.0001091408,0.00009982711,0.006770965,0.0005851804,0.0003556967,0.0002335547,0.01374539],"study_design_scores_gemma":[0.0002174471,0.001750193,0.8660378,0.00003791684,0.001620588,0.0006080034,0.0001323066,0.1261507,0.0007449819,0.001922825,0.0007194389,0.00005771464],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9898832,0.0001839126,0.008525305,0.00007354628,0.00001299817,0.00006964963,0.0008310787,0.00006421989,0.0003561243],"genre_scores_gemma":[0.991553,0.00006350811,0.007094362,0.00001842982,0.00001273038,0.00006220633,0.001009908,0.00001588708,0.0001698031],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01180349,"threshold_uncertainty_score":0.06242359,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02687113738386953,"score_gpt":0.326049168008342,"score_spread":0.2991780306244725,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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