{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001361607,0.00008971708,0.0001132572,0.0001117241,0.0001003267,0.00001260878,0.0001081128,0.00008587229,0.00001552939],"category_scores_gemma":[0.0006916894,0.00006043863,0.00006280863,0.0001222815,0.0001588302,0.00004317178,0.00003050308,0.00008152705,7.4023e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004789367,"about_ca_system_score_gemma":0.001442148,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002918474,"about_ca_topic_score_gemma":0.002201211,"domain_scores_codex":[0.9987435,0.0001281416,0.0003502987,0.0001585474,0.0005268737,0.00009262544],"domain_scores_gemma":[0.9979754,0.00003706335,0.0005884485,0.00007714607,0.001282708,0.00003924718],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.00128353,0.00007774377,0.3614458,0.00006731948,0.001133685,4.439081e-7,0.0008057503,0.07573492,0.1874718,0.0002583165,0.003175418,0.3685453],"study_design_scores_gemma":[0.005498527,0.0001404505,0.949432,0.0002082091,0.0005014437,0.00009501931,0.00006357439,0.002569689,0.03478744,0.004548877,0.002012956,0.000141779],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9916788,0.003319542,0.001470067,0.0008332443,0.0009679106,0.0002919364,0.001403197,0.000001394967,0.00003392947],"genre_scores_gemma":[0.997288,0.001530488,0.0004111551,0.00005630248,0.0006013575,0.00006449658,0.000005856449,0.000009512158,0.00003285728],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5879862,"threshold_uncertainty_score":0.2558309,"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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