{"id":"W4366448631","doi":"10.1038/s41416-023-02263-5","title":"Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2","year":2023,"lang":"en","type":"article","venue":"British Journal of Cancer","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Université Laval; Centre hospitalier universitaire de Québec; Mount Sinai Hospital; Lunenfeld-Tanenbaum Research Institute; Juravinski Hospital; McMaster University; University of Toronto","funders":"Medical Research and Materiel Command; European Social Fund; National Center for Advancing Translational Sciences; European Regional Development Fund; Instituto de Salud Carlos III; Cancer Council Tasmania; Cancer Council NSW; Cancer Council Victoria; Medical Research Council; Canadian Institutes of Health Research; Cancer Center, University of Kansas; National Institutes of Health; Government of Canada; Centre Léon Bérard; NIH Office of the Director; Maastricht Universitair Medisch Centrum; Universiteit Leiden; Institut Claudius Regaud; Deutsches Krebsforschungszentrum; Unicancer; Freistaat Sachsen; Fox Chase Cancer Center; Ministero dello Sviluppo Economico; Hospices Civils de Lyon; Cancer Council South Australia; Institut Bergonié; Deutsche Krebshilfe; National Institute of General Medical Sciences; Leids Universitair Medisch Centrum; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Institut Gustave-Roussy; Erasmus Medisch Centrum; Radboud Universitair Medisch Centrum; Generalitat de Catalunya; Ovarian Cancer Research Fund; Bundesministerium für Bildung und Forschung; Universiteit Maastricht; Fundación Mutua Madrileña; Ministère du Développement Économique, de l’Innovation et de l’Exportation; Radboud Universiteit; National Cancer Institute; Peter MacCallum Foundation; Institut National de la Santé et de la Recherche Médicale; Cancer Research UK; Fondation du cancer du sein du Québec; Gray Foundation; Royal Marsden NHS Foundation Trust; Centres de Recerca de Catalunya; Ovarian Cancer Australia; Associazione Italiana per la Ricerca sul Cancro; Genome Canada; Breast Cancer Research Foundation; Univerzita Karlova v Praze; National Institute for Health and Care Research; Kansas Bioscience Authority; Amsterdam University Medical Centers; Rijksuniversiteit Groningen; Cancer Australia; Ministerstvo Zdravotnictví Ceské Republiky; European Commission; Lietuvos Mokslo Taryba; National Health and Medical Research Council; Fundación Cellex; Universitair Medisch Centrum Groningen","keywords":"Cancer; Ovarian cancer; Pathogenicity; Pathology; Medicine; Biology; Oncology; Internal medicine","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":[0.003920469,0.0002229291,0.000292354,0.002039222,0.0002802243,0.0006132137,0.0003029067,0.0003453398,0.002783494],"category_scores_gemma":[0.01712217,0.000127254,0.0004442241,0.001523249,0.000540892,0.000358743,0.0006385444,0.0004144629,0.0002374099],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002084524,"about_ca_system_score_gemma":0.0003472498,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001405303,"about_ca_topic_score_gemma":0.001579696,"domain_scores_codex":[0.9987971,0.0005319066,0.0001498597,0.0001764398,0.0002432818,0.0001013963],"domain_scores_gemma":[0.9824222,0.010937,0.004590476,0.0007827141,0.0006582652,0.0006092724],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001360004,0.000004711356,0.9976954,0.00001455538,0.00004716542,0.00004976053,0.00003331881,0.0001065141,0.0001354166,0.00002196387,0.00004414504,0.001710996],"study_design_scores_gemma":[0.000009895689,0.00007654359,0.9980179,0.00001623725,0.00007749004,0.0005986922,0.00008636629,0.0005525957,0.0001560853,0.0001694783,0.0002348573,0.0000038488],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981267,0.0006194073,0.0003160287,0.0000556087,0.000006083294,0.000009133394,0.0003996973,0.000005123033,0.0004622794],"genre_scores_gemma":[0.9993646,0.00006481769,0.0001802663,0.00000784819,0.000009489854,0.000005585569,0.0003117376,0.000002755591,0.00005291558],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003920469,"threshold_uncertainty_score":0.02073365,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008675891185583793,"score_gpt":0.2730566383193235,"score_spread":0.2643807471337397,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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