{"id":"W3161420844","doi":"10.17863/cam.79953","title":"Common variants in breast cancer risk loci predispose to distinct tumor subtypes.","year":2021,"lang":"en","type":"preprint","venue":"Apollo (University of Cambridge)","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; University of British Columbia; Simon Fraser University; McGill University; Queen's University; Mount Sinai Hospital; Lunenfeld-Tanenbaum Research Institute; Royal Victoria Hospital; Centre hospitalier universitaire de Québec; St. Francis Xavier University; BC Cancer Agency; University of Toronto","funders":"Mailman School of Public Health, Columbia University; National Cancer Institute; Servicio Gallego de Salud; Universitätsklinikum Hamburg-Eppendorf; Canadian Institutes of Health Research; University of California, Irvine; University of North Carolina at Chapel Hill; Weill Cornell Medical College; Vanderbilt-Ingram Cancer Center; National Institutes of Health; Queen's University Belfast; Centro de Investigación Biomédica en Red de Cáncer; Universitätsklinikum Köln; Universität zu Köln; Pontificia Universidad Javeriana; Deutsches Krebsforschungszentrum; Clalit Health Services; Odense Universitetshospital; Harvard T.H. Chan School of Public Health; Karolinska Institutet; National Health and Medical Research Council; Oulun Yliopisto; Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill; Deutsche Krebshilfe; University of Toronto; Johns Hopkins Bloomberg School of Public Health; University of Edinburgh; Queen's University; National Human Genome Research Institute; Cancer Council Victoria; School of Medicine, Vanderbilt University; University of Melbourne; School of Medicine, Stanford University; Institut National de la Santé et de la Recherche Médicale; Universität Heidelberg; Biocenter, University of Oulu; National Institute for Health and Care Research; Government of Canada; University of Southern California; Cancer Research UK; Génome Québec; Instituto de Investigación Sanitaria de Santiago de Compostela; Pomorski Uniwersytet Medyczny W Szczecinie; Associazione Italiana per la Ricerca sul Cancro; Genome Canada; Erasmus Universitair Medisch Centrum Rotterdam; European Commission; Université Laval; Helsingin Yliopisto; Medical Research Council; Uppsala Universitet; University of California, San Diego; Johns Hopkins University; Memorial Sloan-Kettering Cancer Center; Fondation du cancer du sein du Québec; Centre Hospitalier Universitaire de Québec; Manchester Biomedical Research Centre; Monash University; University of Wisconsin-Milwaukee; Ovarian Cancer Research Fund; McGill University; Breast Cancer Research Foundation; Lunds Universitet; King's College London; Vanderbilt University; Stanford Cancer Institute; Cancer Research Institute","keywords":"Breast cancer; Genome-wide association study; Estrogen receptor; Biology; Oncology; Cancer; Genetic association; Logistic regression; Internal medicine; Genetics; Single-nucleotide polymorphism; Medicine; Gene; Genotype","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001690217,0.0002538468,0.0004062135,0.000135022,0.00009286517,0.00002388365,0.0005861569,0.0002753185,0.0001109962],"category_scores_gemma":[0.00003074077,0.0003497656,0.000189932,0.0002448367,0.0001364699,0.000007812536,0.001241952,0.0003495335,0.000009166279],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002939788,"about_ca_system_score_gemma":0.0007380189,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01556327,"about_ca_topic_score_gemma":0.01240367,"domain_scores_codex":[0.9984513,0.0001397223,0.0002033937,0.0007128295,0.0002118994,0.0002808924],"domain_scores_gemma":[0.9986054,0.00001485387,0.0002649812,0.0007688972,0.0002092931,0.0001365606],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002162025,0.0008897742,0.8019765,0.0009262528,0.001644211,0.0005360902,0.00309301,0.0187884,0.06368867,0.000122226,0.08112916,0.0250437],"study_design_scores_gemma":[0.000965634,0.00005904899,0.9873005,0.000210663,0.0001874868,0.00002615679,0.001023545,0.0004447474,0.004295813,0.00001639194,0.004945152,0.0005248268],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9927448,0.0007526199,0.001519206,0.0007267277,0.0004391936,0.0003519102,0.002510471,0.00001429887,0.0009407986],"genre_scores_gemma":[0.9964045,0.0005068515,0.001078388,0.0001252249,0.0001503408,0.000004956497,0.0006063185,0.00003210141,0.001091322],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1853241,"threshold_uncertainty_score":0.9998955,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007398745037230215,"score_gpt":0.2324306309430558,"score_spread":0.2250318859058256,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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