{"id":"W4384298051","doi":"10.1136/jmg-2023-109185","title":"Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel","year":2023,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; University of British Columbia; BC Cancer Agency; McGill University; University Health Network; University of Toronto; Royal Victoria Hospital; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital","funders":"Division of Cancer Epidemiology and Genetics, National Cancer Institute; Medical Research and Materiel Command; Institute of Cancer Research; National Center for Chronic Disease Prevention and Health Promotion; Servicio Gallego de Salud; Health and Medical Research Fund; Guy's and St Thomas' NHS Foundation Trust; Instituto de Salud Carlos III; Cancer Council Western Australia; Cancer Council NSW; Cancer Council Victoria; World Cancer Research Fund; Medical Research Council; Heidelberger Zentrum für Personalisierte Onkologie Deutsches Krebsforschungszentrum In Der Helmholtz-Gemeinschaft; Chief Scientist Office, Scottish Government Health and Social Care Directorate; Manchester Biomedical Research Centre; Seventh Framework Programme; University of California, San Francisco; Oulun Yliopistollinen Sairaala; Freistaat Sachsen; Directorate-General XII, Science, Research, and Development; Stockholm läns landsting; Universitätsklinikum Hamburg-Eppendorf; Xunta de Galicia; Stichting Tegen Kanker; Gesellschaft der Freunde der Medizinischen Hochschule Hannover; Institut Gustave-Roussy; Ministero dello Sviluppo Economico; Cancer Council South Australia; Kreftforeningen; Memorial Sloan-Kettering Cancer Center; Centre International de Recherche sur le Cancer; Institut National Du Cancer; Center for Agroforestry, University of Missouri; Oulun Yliopisto; National Health and Medical Research Council; Ministry of Education, Science and Technology; Deutsche Krebshilfe; Cancer Institute NSW; Medizinischen Hochschule Hannover; Karolinska Institutet; Associazione Italiana per la Ricerca sul Cancro; Scottish Government; KWF Kankerbestrijding; Syöpäsäätiö; Centrum för idrottsforskning; Vetenskapsrådet; Norges Forskningsråd; Stockholms Läns Landsting; University of Westminster; Ligue Contre le Cancer; Kuopion Yliopistollinen Sairaala; California Department of Public Health; National Research Foundation of Korea; Mutuelle Générale de l'Education Nationale; Hellenic Health Foundation; Ministerie van Volksgezondheid, Welzijn en Sport; Alexander von Humboldt-Stiftung; University of Southern California; Cancerfonden; Cancer Council Tasmania; Itä-Suomen Yliopisto; Eberhard Karls Universität Tübingen; American Cancer Society; Cancer Australia; Russian Foundation for Basic Research; University of Crete; Institut National de la Santé et de la Recherche Médicale; Transcan; Deutsche Gesetzliche Unfallversicherung; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Public Health Institute; King's College London; Gentofte Hospital; Deutsche Forschungsgemeinschaft; Canadian Institutes of Health Research; European Commission; Against Breast Cancer; University College London; Scottish Funding Council; Stavros Niarchos Foundation; Fondation de France; University of Utah; Breast Cancer Campaign; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; National Institutes of Health; Division of Cancer Prevention, National Cancer Institute; Lon V. Smith Foundation; Ministère du Développement Économique, de l’Innovation et de l’Exportation; Sundhed og Sygdom, Det Frie Forskningsråd; NIHR Oxford Biomedical Research Centre; U.S. Army; Ministry of Science and Higher Education of the Russian Federation; Genome Canada; Uddannelses- og Forskningsministeriet; Academy of Finland; Breast Cancer Research Foundation; Agence Nationale de la Recherche; Canadian Cancer Society; Wellcome Trust; Fondation du cancer du sein du Québec; Fundación Científica Asociación Española Contra el Cáncer; Hamburger Krebsgesellschaft; Cancer Research UK; World Health Organization; Israel Science Foundation; David F. and Margaret T. Grohne Family Foundation; University of California; Programme Grants for Applied Research; Robert Bosch Stiftung; Huntsman Cancer Foundation; National Cancer Institute; European Regional Development Fund; Ministerio de Sanidad, Servicios Sociales e Igualdad; University of Cambridge; Rheinische Friedrich-Wilhelms-Universität Bonn; Oak Foundation; Deutsches Krebsforschungszentrum; National Breast Cancer Foundation; Agence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du Travail; National Institute of Environmental Health Sciences; Swedish Cancer Foundation; VicHealth; U.S. Department of Health and Human Services; Fonds Wetenschappelijk Onderzoek; Huntsman Cancer Institute; Ministerio de Economía y Competitividad; Bundesministerium für Bildung und Forschung; Ovarian Cancer Research Fund; Virginia Department of Health; Susan G. Komen for the Cure; Centers for Disease Control and Prevention; National Institute for Health and Care Research","keywords":"Medicine; Breast cancer; Cohort; Genome-wide association study; Oncology; Internal medicine; Demography; Cancer; Single-nucleotide polymorphism; Genetics; Genotype; Biology; Gene","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":[0.006574332,0.00009816606,0.000195792,0.000203053,0.00001805577,0.000007970736,0.0003195404,0.0001449084,0.00008591801],"category_scores_gemma":[0.001132905,0.00009059234,0.00008974203,0.0003427503,0.00007751681,0.000002812819,0.0000546137,0.0001893038,0.000001721427],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002725736,"about_ca_system_score_gemma":0.002181208,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000179883,"about_ca_topic_score_gemma":0.000276301,"domain_scores_codex":[0.9975675,0.0003559278,0.0006039426,0.0001593349,0.001051147,0.000262143],"domain_scores_gemma":[0.9987437,0.00005737141,0.0003365892,0.0001724852,0.0005541649,0.0001357118],"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":[0.0004042091,0.000290884,0.1718533,0.0001132017,0.0002324384,0.00002003298,0.0004705921,0.1563778,0.04277049,0.000004410184,0.0037244,0.6237382],"study_design_scores_gemma":[0.01079168,0.0007328278,0.8888754,0.0003916035,0.0002094599,0.0000415947,0.0007714995,0.06952888,0.02462139,0.0006927131,0.003028013,0.000314956],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9941408,0.003488247,0.0006900245,0.0009567458,0.0003737325,0.0001803998,0.0001192626,0.000002141243,0.00004861726],"genre_scores_gemma":[0.9968666,0.002118433,0.0003126173,0.000158058,0.0004593406,0.00002826963,0.00001151009,0.00002458755,0.00002054268],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7170221,"threshold_uncertainty_score":0.386937,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03009413047976025,"score_gpt":0.3429998907504851,"score_spread":0.3129057602707249,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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