{"id":"W2901952863","doi":"10.1016/j.ajhg.2018.11.002","title":"Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes","year":2018,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1183,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia; University Health Network; Sinai Health System; Public Health Ontario; Université Laval; Centre Hospitalier de l’Université de Montréal; Simon Fraser University; McGill University; Royal Victoria Hospital; Centre hospitalier universitaire de Québec; BC Cancer Agency; Queen's University; Mount Sinai Hospital; Lunenfeld-Tanenbaum Research Institute; University of Toronto","funders":"Canadian Institutes of Health Research; Horizon 2020 Framework Programme; National Institutes of Health; Ministero dello Sviluppo Economico; Fondazione Italiana per la Ricerca sul Cancro; Medical Research Council; Leids Universitair Medisch Centrum; Karolinska Institutet; University of California, San Diego; Oulun Yliopisto; University of Toronto; Queen's University; University of Melbourne; Monash University; National Cancer Institute; Universität Heidelberg; Curtin University of Technology; Deutsches Krebsforschungszentrum; Hunter Medical Research Institute; European Commission; University of Oxford; King's College London; Mailman School of Public Health, Columbia University; Seventh Framework Programme; Queen's University Belfast; University College London; Wellcome Trust; Cancer Research UK; University of Southampton; Memorial Sloan-Kettering Cancer Center; Fondation du cancer du sein du Québec; Génome Québec; National Institute for Health and Care Research; Ministère du Développement Économique, de l’Innovation et de l’Exportation; Genome Canada; Universiteit Leiden; Biocenter, University of Oulu; Government of Canada; Institut National de la Santé et de la Recherche Médicale; Ministère de l'Économie, de la Science et de l'Innovation - Québec; Wayne State University; Health Sciences Center, University of New Mexico; Case Western Reserve University","keywords":"Breast cancer; Polygenic risk score; Oncology; Cancer; Medicine; Internal medicine; Biology; Genetics; Gene; Genotype; Single-nucleotide polymorphism","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":[0.004209799,0.0009064996,0.0006851958,0.003221878,0.0005979793,0.001337713,0.0009794683,0.001225135,0.004628371],"category_scores_gemma":[0.01882947,0.0003564573,0.001968368,0.002430036,0.0005806249,0.000842056,0.001362611,0.001596042,0.0006607427],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003651087,"about_ca_system_score_gemma":0.0006696236,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005380909,"about_ca_topic_score_gemma":0.004435329,"domain_scores_codex":[0.9965878,0.001967099,0.0002641791,0.0005158508,0.0004014351,0.0002635928],"domain_scores_gemma":[0.9862155,0.007827417,0.002235411,0.001794658,0.0008802574,0.001046771],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006773398,0.00007415031,0.9863293,0.00002319218,0.001308055,0.0001034304,0.00005498288,0.001279724,0.0003754482,0.0005076734,0.0004908771,0.008775722],"study_design_scores_gemma":[0.0001047233,0.0003487716,0.9654018,0.00003085397,0.001165405,0.0007992352,0.00018799,0.0263523,0.0002700097,0.004622137,0.0006699643,0.00004687185],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9886339,0.0009877323,0.006289313,0.0005228366,0.0000919196,0.00002743306,0.001757555,0.0001236501,0.001565647],"genre_scores_gemma":[0.9965153,0.0001471809,0.001823576,0.00003272816,0.00006735592,0.00001539897,0.0008825827,0.0000194455,0.0004964403],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005380909,"threshold_uncertainty_score":0.02226382,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0114559861583164,"score_gpt":0.2884326431659777,"score_spread":0.2769766570076613,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}