{"id":"W3169608383","doi":"10.1038/s41436-021-01198-7","title":"The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant","year":2021,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":38,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Université Laval; University of Toronto; University Health Network; Centre hospitalier universitaire de Québec; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital","funders":"European Social Fund; National Center for Advancing Translational Sciences; Instituto de Salud Carlos III; Medical Research Council; Canadian Institutes of Health Research; Cancer Center, University of Kansas; National Institutes of Health; Centro de Investigación Biomédica en Red de Cáncer; Fox Chase Cancer Center; Ministero dello Sviluppo Economico; Deutsche Krebshilfe; National Health and Medical Research Council; Fisher Center for Alzheimer's Research Foundation; Jewish General Hospital; Royal Marsden NHS Foundation Trust; Centres de Recerca de Catalunya; Istituto Oncologico Veneto; Deutsches Krebsforschungszentrum; Clalit Health Services; Lietuvos Mokslo Taryba; Ovarian Cancer Research Fund; Ministerio de Economía y Competitividad; Landspítali Háskólasjúkrahús; Korea Health Industry Development Institute; Hungarian Scientific Research Fund; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Ministero della Salute; Kerry Group Kuok Foundation; Generalitat de Catalunya; National Cancer Institute; Liga Portuguesa Contra o Cancro; Russian Foundation for Basic Research; Ministerstvo Školství, Mládeže a Tělovýchovy; National Breast Cancer Foundation; Wellcome Trust; Memorial Sloan-Kettering Cancer Center; Fondation du cancer du sein du Québec; National Institute for Health and Care Research; Nemzeti Kutatási Fejlesztési és Innovációs Hivatal; Government of Canada; Israel Cancer Association; Fundación Mutua Madrileña; Ministère du Développement Économique, de l’Innovation et de l’Exportation; KWF Kankerbestrijding; Cancer Research UK; Associazione Italiana per la Ricerca sul Cancro; Genome Canada; Breast Cancer Research Foundation; Univerzita Karlova v Praze; McGill University; National Institute of General Medical Sciences; Institut National Du Cancer; Kansas Bioscience Authority; Cancer Association of South Africa; Beth Israel Deaconess Medical Center; Georgetown University; Fonds Wetenschappelijk Onderzoek; European Commission","keywords":"Polygenic risk score; Breast cancer; Medicine; Oncology; Cancer; Internal medicine; Genetics; Biology; Single-nucleotide polymorphism; Genotype; 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":[0.001485808,0.0004508478,0.000215749,0.0007299595,0.0002395863,0.0006408255,0.0003031751,0.0006679616,0.00260106],"category_scores_gemma":[0.006550929,0.0001411788,0.0006409633,0.0005292842,0.000357469,0.0003222601,0.0004718803,0.0004556582,0.0004344681],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001752416,"about_ca_system_score_gemma":0.0002414159,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002281588,"about_ca_topic_score_gemma":0.002504736,"domain_scores_codex":[0.99927,0.0003976843,0.00005478848,0.0001233094,0.00009512682,0.00005899286],"domain_scores_gemma":[0.9980145,0.0008909925,0.0005613063,0.0001807969,0.0001255188,0.0002268622],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003443619,0.00002278354,0.9956778,0.000004445967,0.0001535775,0.00007857432,0.0000214423,0.0005809999,0.0003794312,0.00006434086,0.00007967639,0.002592616],"study_design_scores_gemma":[0.00001941772,0.0002169609,0.9905903,0.00001358497,0.0001844481,0.0008534695,0.00006905706,0.007072425,0.0003263688,0.000387491,0.0002552818,0.00001113871],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998333,0.0002097431,0.000524947,0.0001133404,0.00001378202,0.000003397944,0.0001557499,0.000008360763,0.0006375522],"genre_scores_gemma":[0.9995271,0.00002899373,0.0001757855,0.00001069431,0.000007801115,0.000001623821,0.0001148818,0.000001716871,0.0001315288],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00260106,"threshold_uncertainty_score":0.008701384,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01189741912466987,"score_gpt":0.2601185280251151,"score_spread":0.2482211089004453,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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