{"id":"W3038926436","doi":"10.1001/jamaoncol.2020.2134","title":"Characterization of the Cancer Spectrum in Men With Germline<i>BRCA1</i>and<i>BRCA2</i>Pathogenic Variants","year":2020,"lang":"en","type":"article","venue":"JAMA Oncology","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":67,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; University of Toronto; University Health Network; Centre hospitalier universitaire de Québec; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital","funders":"Klinisk Institut, Aalborg Universitet; Servicio Gallego de Salud; Lee Kong Chian School of Medicine, Nanyang Technological University; European Regional Development Fund; Medical Research Council; Canadian Institutes of Health Research; Manchester Biomedical Research Centre; Fox Chase Cancer Center; National Institutes of Health; Centro de Investigación Biomédica en Red de Cáncer; National Cancer Institute; Liga Portuguesa Contra o Cancro; National Institute of General Medical Sciences; Institut National Du Cancer; Tel Aviv University; Ministerio de Economía y Competitividad; Landspítali Háskólasjúkrahús; Aalborg Universitetshospital; Fondation ARC pour la Recherche sur le Cancer; Medizinische Universität Wien; Karolinska Institutet; Hungarian Scientific Research Fund; Gentofte Hospital; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Ministero della Salute; Generalitat de Catalunya; Associazione Italiana per la Ricerca sul Cancro; Aalborg Universitet; Deutsche Krebshilfe; National Breast Cancer Foundation; Seoul National University; Universität Wien; Cancer Australia; National Institute for Health and Care Research; Georgetown University; Nanyang Technological University; Centre Hospitalier Universitaire de Québec; Istituto Oncologico Veneto; Helsingin Yliopisto; Université Laval; Centres de Recerca de Catalunya; KWF Kankerbestrijding; Cancer Research UK; Memorial Sloan-Kettering Cancer Center; Wellcome Trust; College of Medicine, Seoul National University; Susan G. Komen for the Cure; National Cancer Centre of Singapore; Deutsches Krebsforschungszentrum; Università degli Studi di Firenze; Instituto de Investigación Sanitaria de Santiago de Compostela; Ministério da Ciência, Tecnologia e Inovação; Kansas Bioscience Authority; University of Chicago; Cancer Research Institute; Dr. Ralph and Marian Falk Medical Research Trust; Cancer Center, University of Kansas; Cancerfonden; Fundación Mutua Madrileña; Rigshospitalet; National Health and Medical Research Council; Fisher Center for Alzheimer's Research Foundation; Instituto de Salud Carlos III; Ohio State University; Institut Català de la Salut; University of Pennsylvania; European Commission; Breast Cancer Research Foundation","keywords":"Medicine; Germline; Cancer; BRCA2 Protein; Germline mutation; Oncology; Genetics; Mutation; Internal medicine; Gene; Biology","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":[0.0001199926,0.0001083082,0.0001704225,0.00002474459,0.00003397511,0.000008860315,0.0002073884,0.000164047,0.00004133465],"category_scores_gemma":[0.00004132811,0.00008156986,0.000033076,0.0002142383,0.0001388991,0.000006006997,0.0001414129,0.0001281994,0.00000190797],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007856843,"about_ca_system_score_gemma":0.0004663868,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004686847,"about_ca_topic_score_gemma":0.0003784586,"domain_scores_codex":[0.9991114,0.0001096122,0.0002155041,0.0003139733,0.00008689817,0.0001626081],"domain_scores_gemma":[0.9995125,0.00001168908,0.0001591194,0.000220629,0.00004954218,0.00004654875],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002350207,0.00003836772,0.01390111,0.00002023974,0.00004891157,0.000004046476,0.0005241572,0.0001340594,0.9794868,0.0001048416,0.000391451,0.005111032],"study_design_scores_gemma":[0.002958093,0.0007203933,0.4262007,0.00003127068,0.00006537353,0.00004224763,0.0001368621,0.0008186245,0.5040743,0.00009411553,0.06460635,0.0002517077],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9796134,0.0002939178,0.0004635054,0.01809793,0.0001222182,0.000281385,0.00005654246,0.000005991114,0.001065074],"genre_scores_gemma":[0.9959008,0.0003823306,0.0003073886,0.002887445,0.0002938487,0.00007157353,0.00003615475,0.00001957344,0.0001009469],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4754125,"threshold_uncertainty_score":0.3326322,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01058025025450346,"score_gpt":0.2567594755809587,"score_spread":0.2461792253264552,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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