{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001083502,0.0002039995,0.0003065881,0.00004638977,0.0001059137,0.000008761866,0.0003541768,0.0001204119,0.00002950212],"category_scores_gemma":[0.0003288075,0.000119088,0.00007256196,0.0003893617,0.0005432303,0.000004397689,0.0001004552,0.0002433485,1.230356e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001796841,"about_ca_system_score_gemma":0.0009055553,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001834919,"about_ca_topic_score_gemma":0.001647608,"domain_scores_codex":[0.9976977,0.0005623901,0.0006420243,0.0004809535,0.0002705842,0.0003463882],"domain_scores_gemma":[0.9982488,0.0001366787,0.0004381898,0.0007838408,0.0003280367,0.00006446223],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.008386522,0.0005079939,0.637257,0.0003391141,0.0007794717,0.00004762228,0.003474609,0.07618447,0.2444918,0.00001510883,0.0005716735,0.0279446],"study_design_scores_gemma":[0.005805889,0.001060532,0.9671072,0.0003124555,0.0001804566,0.00008169107,0.0006354542,0.004903011,0.01908938,0.0002103772,0.0004462149,0.0001673609],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9902066,0.002889426,0.00366332,0.0004377507,0.0004441924,0.0007424796,0.001561745,0.000005483784,0.00004898169],"genre_scores_gemma":[0.9966754,0.001943186,0.0006059911,0.0001406345,0.0002818262,0.0002236255,0.00004376659,0.00003432659,0.00005125714],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3298501,"threshold_uncertainty_score":0.4856268,"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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