{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005577831,0.000193712,0.0002159498,0.0009410818,0.0003127923,0.0003016099,0.0002800798,0.0002970828,0.001293342],"category_scores_gemma":[0.001595968,0.0001431666,0.0002640502,0.0006798367,0.0003150453,0.0003398335,0.0003673216,0.0002788039,0.000144155],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000132743,"about_ca_system_score_gemma":0.0001590092,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002492921,"about_ca_topic_score_gemma":0.003260378,"domain_scores_codex":[0.9997041,0.00006503473,0.00002659826,0.0001089044,0.00005189463,0.00004357011],"domain_scores_gemma":[0.9990968,0.0001533606,0.0004900162,0.00006211262,0.00005454331,0.0001432515],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00005085868,0.000007464212,0.998754,0.000003474523,0.00001036248,0.00003861475,0.0000347062,0.00001718793,0.000371414,0.00001527117,0.00003845713,0.0006581449],"study_design_scores_gemma":[0.00000337746,0.0000484651,0.998923,0.000004227154,0.000009111578,0.0006226904,0.0001043592,0.00008250129,0.00008160204,0.000029008,0.00009020419,0.000001364203],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990151,0.0002850103,0.0001216004,0.00004021162,0.000003188988,0.000006222995,0.0002519182,0.00000256026,0.0002741343],"genre_scores_gemma":[0.9994606,0.0000884202,0.00011526,0.00002654074,0.000007722978,0.000004458788,0.0002323873,0.000001384453,0.000063203],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002492921,"threshold_uncertainty_score":0.004956782,"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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