{"id":"W4400024441","doi":"10.17615/mt16-xj68","title":"Combined Associations of a Polygenic Risk Score and Classical Risk Factors with Breast Cancer Risk","year":2024,"lang":"en","type":"article","venue":"Edinburgh Research Explorer (University of Edinburgh)","topic":"Nutrition, Genetics, and Disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Medical Research and Materiel Command; National Heart, Lung, and Blood Institute; Universitätsklinikum Hamburg-Eppendorf; Programme Grants for Applied Research; Instituto de Salud Carlos III; Cancer Council Tasmania; National Health and Medical Research Council; Medical Research Council; Institut National Du Cancer; Centers for Disease Control and Prevention; Hellenic Health Foundation; Rheinische Friedrich-Wilhelms-Universität Bonn; Institut Gustave-Roussy; Deutsche Krebshilfe; Swedish Cancer Foundation; Agence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du Travail; Vetenskapsrådet; Bundesministerium für Bildung und Forschung; Ministerio de Economía y Competitividad; Institut National de la Santé et de la Recherche Médicale; Cancer Australia; Agence Nationale de la Recherche; Breast Cancer Research Foundation; McGill University; Deutsche Gesetzliche Unfallversicherung; Gentofte Hospital; Deutsche Forschungsgemeinschaft; Cancer Council South Australia; Fonds Wetenschappelijk Onderzoek; Cancerfonden; National Cancer Institute; Cancer Institute NSW; National Breast Cancer Foundation; University of Cambridge; Cancer Research UK; Division of Cancer Prevention, National Cancer Institute; National Institute for Health and Care Research; Associazione Italiana per la Ricerca sul Cancro; Lon V. Smith Foundation; U.S. Army; U.S. Department of Health and Human Services; Mayo Clinic; National Institutes of Health; David F. and Margaret T. Grohne Family Foundation; Ligue Contre le Cancer; Deutsches Krebsforschungszentrum; Agency for Science, Technology and Research; Deutschen Konsortium für Translationale Krebsforschung; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; Fondation de France; Sundhed og Sygdom, Det Frie Forskningsråd; Cancer Council Victoria; California Department of Public Health; European Commission; World Cancer Research Fund; Stavros Niarchos Foundation; Cancer Council NSW; Susan G. Komen for the Cure","keywords":"Polygenic risk score; Breast cancer; Medicine; Oncology; Demography; Cancer; Internal medicine; Biology; Genetics; Single-nucleotide polymorphism; Gene; Genotype; Sociology","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":[0.0006625254,0.0002100472,0.0003042872,0.0003522789,0.0004180301,0.00004129797,0.0003176127,0.0002189978,0.0006325329],"category_scores_gemma":[0.0002360564,0.0002025742,0.0001915896,0.0005539533,0.0008744691,0.00003769695,0.0002795696,0.0004759483,0.000001006608],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007360993,"about_ca_system_score_gemma":0.0004333653,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002087351,"about_ca_topic_score_gemma":0.0003649123,"domain_scores_codex":[0.9978937,0.0002071523,0.0001962209,0.0005878853,0.0006623407,0.000452705],"domain_scores_gemma":[0.9982169,0.0002019031,0.0001665769,0.0003909803,0.0006462151,0.000377429],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001240945,0.0004716191,0.8805438,0.00006517526,0.0009743084,0.00002178839,0.002840115,0.00008409737,0.01129814,0.00005200051,0.09998491,0.002423129],"study_design_scores_gemma":[0.005860987,0.002918969,0.9415157,0.0004570442,0.001182292,0.000009348077,0.02132909,0.002167111,0.007937456,0.004397562,0.01124879,0.0009756611],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9934317,0.002204588,0.0005193171,0.0004098479,0.0002038593,0.0003210132,0.00269748,0.0000272112,0.000184973],"genre_scores_gemma":[0.9869889,0.01162717,0.0001643421,0.000005047706,0.0003656972,0.000005132307,0.0001679064,0.00002386245,0.0006519214],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08873612,"threshold_uncertainty_score":0.8260734,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03759516769058894,"score_gpt":0.2906114617229196,"score_spread":0.2530162940323306,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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