{"id":"W6944080945","doi":"10.17863/cam.64684","title":"Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants","year":2019,"lang":"en","type":"article","venue":"Apollo (University of Cambridge)","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Jonsson Comprehensive Cancer Center; National Center for Advancing Translational Sciences; Medical Research Council; National Institutes of Health; Kerry Group Kuok Foundation; Freistaat Sachsen; Centro de Investigación Biomédica en Red de Cáncer; National Cancer Institute; Liga Portuguesa Contra o Cancro; Pomorski Uniwersytet Medyczny W Szczecinie; Fox Chase Cancer Center; Ministero dello Sviluppo Economico; Institut National Du Cancer; Deutsche Krebshilfe; European Regional Development Fund; Centre National de la Recherche Scientifique; Ministerio de Economía y Competitividad; Landspítali Háskólasjúkrahús; Hungarian Scientific Research Fund; Korea Health Industry Development Institute; Generalitat de Catalunya; University of Toronto; Universitair Ziekenhuis Gent; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Ministero della Salute; Russian Foundation for Basic Research; Universität Wien; Cancer Australia; Ministerstvo Školství, Mládeže a Tělovýchovy; National Breast Cancer Foundation; Nemzeti Kutatási Fejlesztési és Innovációs Hivatal; National Institute for Health and Care Research; Memorial Sloan-Kettering Cancer Center; NRG Oncology; European Commission; NorthShore University HealthSystem; University of California, San Francisco; Universiteit Gent; Institut Català de la Salut; University of Pennsylvania; Fundación Mutua Madrileña; Ministère du Développement Économique, de l’Innovation et de l’Exportation; Breast Cancer Research Foundation; McGill University; Univerzita Karlova v Praze; Clalit Health Services; Deutsches Krebsforschungszentrum; Odense Universitetshospital; Faculty of Medicine, McGill University; Peter MacCallum Cancer Centre; Helsingin ja Uudenmaan Sairaanhoitopiiri; American Cancer Society; Fonds Wetenschappelijk Onderzoek; National Council for Scientific Research; Cancer Center, University of Kansas; Cancerfonden; Istituto Oncologico Veneto; Royal Marsden NHS Foundation Trust; Canadian Institutes of Health Research; Dana-Farber Cancer Institute; European Social Fund; University of Chicago; Ministério da Ciência, Tecnologia e Inovação; Dr. Ralph and Marian Falk Medical Research Trust; Kansas Bioscience Authority; Cancer Research UK; Associazione Italiana per la Ricerca sul Cancro; Beckman Research Institute, City of Hope; Centre Hospitalier Universitaire de Québec; Georgetown University; Susan G. Komen for the Cure; University of Pretoria; Instituto de Salud Carlos III; Ohio State University; National Health and Medical Research Council; Jewish General Hospital; Fisher Center for Alzheimer's Research Foundation","keywords":"Polygenic risk score; Ovarian cancer; Prospective cohort study; Breast cancer; Epithelial ovarian cancer; Cohort; Serous fluid; Population; Cohort study","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":[0.000129276,0.0001184051,0.0002024279,0.00006451669,0.0001034055,0.000008112001,0.000111265,0.0001277511,0.00001548859],"category_scores_gemma":[0.00001488697,0.0001417815,0.00006423044,0.00007182726,0.0003054471,0.00001297019,0.0001302019,0.0000563165,5.153163e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002052677,"about_ca_system_score_gemma":0.0001548585,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002800643,"about_ca_topic_score_gemma":0.0004424053,"domain_scores_codex":[0.9992802,0.00004148414,0.0001027309,0.0003340793,0.0000830433,0.0001584846],"domain_scores_gemma":[0.9994174,0.00002230401,0.000158543,0.0002222079,0.00009521481,0.0000843617],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0009530439,0.00003800276,0.1969813,0.0002016392,0.0006681564,0.000002383527,0.0009094712,0.00004767577,0.7602082,0.0005779775,0.0007970778,0.03861501],"study_design_scores_gemma":[0.004245289,0.0003486325,0.9733685,0.00004612608,0.0003578,0.00005248668,0.001696122,0.0006073793,0.01644872,0.00008730181,0.002420283,0.0003213955],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9943089,0.001925331,0.001041373,0.0001567186,0.000112057,0.0002833765,0.002043772,0.000004340968,0.0001240609],"genre_scores_gemma":[0.9963711,0.001656465,0.001419088,0.00002905696,0.00004641873,0.000001224371,0.00002990549,0.00001426374,0.0004325132],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7763872,"threshold_uncertainty_score":0.5781682,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008243729409467862,"score_gpt":0.2285474422185885,"score_spread":0.2203037128091206,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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