{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01128054,0.0007341778,0.0004379274,0.001378109,0.0004036622,0.000887687,0.0008125617,0.0005712087,0.0010703],"category_scores_gemma":[0.0106396,0.0001968463,0.0009909001,0.0008603303,0.0003248524,0.0003904146,0.0009158506,0.0004819329,0.0003010695],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000508542,"about_ca_system_score_gemma":0.0004461159,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006456906,"about_ca_topic_score_gemma":0.005595221,"domain_scores_codex":[0.9971282,0.001914193,0.0001566962,0.000427655,0.0002475069,0.0001258784],"domain_scores_gemma":[0.9951099,0.002335479,0.0008294175,0.0006488299,0.0007121447,0.0003642901],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003188128,0.00003372342,0.9953158,0.000006753792,0.0002236368,0.00002494219,0.00005673474,0.0006476803,0.0001273368,0.00005588222,0.0001351662,0.003053619],"study_design_scores_gemma":[0.0000803244,0.0004300982,0.9789226,0.00001850469,0.0002950839,0.0002616861,0.0002034165,0.01878413,0.0002331632,0.0002723431,0.0004820995,0.00001657997],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998086,0.0001309626,0.0008512828,0.00007751254,0.000009248288,0.00001652024,0.0003978933,0.00001549089,0.0004150802],"genre_scores_gemma":[0.9981962,0.00004557944,0.0007208689,0.0000306605,0.00001045477,0.00001536165,0.0008743919,0.000005696297,0.000100753],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01128054,"threshold_uncertainty_score":0.05965787,"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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