{"id":"W4317776104","doi":"10.1200/jco.22.01978","title":"Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival","year":2023,"lang":"en","type":"article","venue":"Journal of Clinical Oncology","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":28,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; University of Toronto; Mount Sinai Hospital","funders":"Medical Research and Materiel Command; National Institute on Aging; Servicio Gallego de Salud; Institute of Biomedical Sciences, Academia Sinica; Instituto de Salud Carlos III; Cancer Council Western Australia; Cancer Council NSW; Cancer Council Victoria; World Cancer Research Fund; Medical Research Council; Manchester Biomedical Research Centre; Division of Cancer Prevention, National Cancer Institute; National Institutes of Health; Hellenic Health Foundation; Universitätsklinikum Hamburg-Eppendorf; Xunta de Galicia; Rheinische Friedrich-Wilhelms-Universität Bonn; Mutuelle Générale de l'Education Nationale; Imperial Experimental Cancer Medicine Centre; Institut Gustave-Roussy; Center for Agroforestry, University of Missouri; Oulun Yliopisto; National Health and Medical Research Council; Ministry of Education, Science and Technology; Academia Sinica; Deutsche Krebshilfe; National Institute for Health and Care Research; Centers for Disease Control and Prevention; Cancer Council South Australia; Memorial Sloan-Kettering Cancer Center; Centre International de Recherche sur le Cancer; Kreftforeningen; Institut National Du Cancer; Sanofi; Leids Universitair Medisch Centrum; Karolinska Institutet; Associazione Italiana per la Ricerca sul Cancro; KWF Kankerbestrijding; Syöpäsäätiö; Vetenskapsrådet; National Medical Research Council; Norges Forskningsråd; Stockholms Läns Landsting; University of Westminster; Ligue Contre le Cancer; California Department of Public Health; National Research Foundation of Korea; Korea Health Industry Development Institute; Japan Agency for Medical Research and Development; Deutsche Gesetzliche Unfallversicherung; King's College London; Gentofte Hospital; University of Southern California; Cancerfonden; American Cancer Society; Cancer Australia; Russian Foundation for Basic Research; Kuopion Yliopistollinen Sairaala; Erasmus Universiteit Rotterdam; National Heart, Lung, and Blood Institute; Universiteit Leiden; University of Crete; Institut National de la Santé et de la Recherche Médicale; Agency for Science, Technology and Research; Canadian Institutes of Health Research; European Commission; European Organisation for Research and Treatment of Cancer; Cancer Institute NSW; Kerry Group Kuok Foundation; Stavros Niarchos Foundation; Fondation de France; National Research Foundation; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; University of Utah; Breast Cancer Campaign; 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; Programme Grants for Applied Research; Robert Bosch Stiftung; Harvard T.H. Chan School of Public Health; Huntsman Cancer Foundation; University of California, San Francisco; Intermountain Healthcare; Consejo Nacional de Ciencia y Tecnología; Sundhed og Sygdom, Det Frie Forskningsråd; National Center for Chronic Disease Prevention and Health Promotion; Unicancer; Deutsches Krebsforschungszentrum; National Research Foundation Singapore; Academy of Finland; James S. McDonnell Foundation; Agence Nationale de la Recherche; Wellcome Trust; Fondation du cancer du sein du Québec; Brigham and Women's Hospital; U.S. Department of Defense; Cancer Research UK; U.S. Army; Ministry of Science and Higher Education of the Russian Federation; Eli Lilly and Company; Lon V. Smith Foundation; Genome Canada; Cancer Council Tasmania; Itä-Suomen Yliopisto; National Cancer Institute; European Regional Development Fund; Ministerio de Sanidad, Servicios Sociales e Igualdad; Government of Canada; University of Cambridge; Breast Cancer Research Foundation; U.S. Department of Health and Human Services; National Cancer Research Institute; F. Hoffmann-La Roche; Freistaat Sachsen; Fonds Wetenschappelijk Onderzoek; Huntsman Cancer Institute; Ministerio de Economía y Competitividad; Bundesministerium für Bildung und Forschung; Ministry of Education, Culture, Sports, Science and Technology; Ovarian Cancer Research Fund; Susan G. Komen for the Cure; Taiwan Biobank","keywords":"Medicine; Breast cancer; Oncology; Internal medicine; Polygenic risk score; Cancer; Single-nucleotide polymorphism; Gene; Genetics; Genotype; Biology","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":[0.0009594549,0.0003022472,0.0003728916,0.0006082605,0.0002133663,0.0004202178,0.0001821282,0.000267165,0.0009434183],"category_scores_gemma":[0.002185976,0.0001024825,0.0005055202,0.0008201267,0.0002808968,0.0002052296,0.0003088297,0.0003775231,0.0000901848],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001482254,"about_ca_system_score_gemma":0.000187358,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002171434,"about_ca_topic_score_gemma":0.002021493,"domain_scores_codex":[0.999424,0.000226491,0.00003971083,0.0001456638,0.00009187152,0.0000723167],"domain_scores_gemma":[0.9982263,0.0005352465,0.0007601121,0.0001988859,0.00009360088,0.0001857761],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002810422,0.00001311212,0.9959041,0.000006713795,0.0002434063,0.0000348943,0.000008233621,0.0003017709,0.0005869796,0.00003139878,0.00005280184,0.002535481],"study_design_scores_gemma":[0.000008172075,0.00008815788,0.997922,0.000002455158,0.00009288544,0.0002085297,0.00001244777,0.00134324,0.00009275097,0.0001228842,0.0001030859,0.000003371386],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982958,0.0003916868,0.0006342108,0.00008340467,0.000006271371,0.000006119742,0.0002978201,0.00001014792,0.000274461],"genre_scores_gemma":[0.999493,0.00005567994,0.0001575825,0.00001319295,0.00001011165,0.000003247192,0.0002077026,0.000001691163,0.00005775955],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002171434,"threshold_uncertainty_score":0.005074143,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06613917808660164,"score_gpt":0.418115325158246,"score_spread":0.3519761470716444,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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