{"id":"W3216620312","doi":"10.1200/jco.21.02112","title":"Cancer Risks Associated With <i>BRCA1</i> and <i>BRCA2</i> Pathogenic Variants","year":2022,"lang":"en","type":"article","venue":"Journal of Clinical Oncology","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":275,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Lunenfeld-Tanenbaum Research Institute; University of Toronto; Mount Sinai Hospital","funders":"European Social Fund; National Cancer Institute; NIHR Cambridge Biomedical Research Centre; National Center for Advancing Translational Sciences; Medical Research Council; lékařská fakulta Univerzity Karlovy; Manchester Biomedical Research Centre; National Institutes of Health; Kerry Group Kuok Foundation; Centro de Investigación Biomédica en Red de Cáncer; Deutsche Krebshilfe; Sahlgrenska Universitetssjukhuset; Uppsala Universitet; NRG Oncology; Ministero dell’Istruzione, dell’Università e della Ricerca; Canadian Institutes of Health Research; Cancerfonden; Cancer Australia; National Breast Cancer Foundation; European Commission; Ministerio de Ciencia e Innovación; Korea Health Industry Development Institute; National Institute for Health and Care Research; Wellcome Trust; Cancer Research UK; Royal Marsden NHS Foundation Trust; Fondation ARC pour la Recherche sur le Cancer; General Secretariat for Research and Technology; National Health and Medical Research Council; Institut National Du Cancer; Ministério da Ciência, Tecnologia e Inovação; Hospital de Câncer de Barretos; Fundación Cellex; Associazione Italiana per la Ricerca sul Cancro; Gray Foundation; Univerzita Karlova v Praze; Deutsches Krebsforschungszentrum; Dipartimenti di Eccellenza; Instituto de Salud Carlos III; Ohio State University","keywords":"Cancer; Prostate cancer; Breast cancer; Ovarian cancer; Risk assessment; Prostate; Genetic variants","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":[0.002277537,0.0005899281,0.0005175336,0.001150935,0.0002200348,0.0005646373,0.0003990172,0.0004326585,0.001553869],"category_scores_gemma":[0.007526842,0.0002222016,0.0008938974,0.0007887295,0.0003006937,0.0003169173,0.0004864856,0.0004695491,0.0001473201],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002758653,"about_ca_system_score_gemma":0.0002941094,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005635511,"about_ca_topic_score_gemma":0.004199647,"domain_scores_codex":[0.998369,0.0005272116,0.0001489933,0.0005573929,0.0002543545,0.0001430374],"domain_scores_gemma":[0.9944641,0.001793891,0.002733603,0.0003997362,0.000317368,0.0002913205],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003907242,0.000009404261,0.9897653,0.00005527354,0.000427178,0.0001140766,0.00004257649,0.0006330559,0.001098712,0.0001409597,0.0002623426,0.007060451],"study_design_scores_gemma":[0.00002115179,0.0001289267,0.9949569,0.00002583261,0.0004042176,0.001209718,0.0000497351,0.0006102925,0.001094103,0.000265188,0.001224722,0.000009216525],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9784678,0.007949698,0.005037222,0.0003101762,0.00003911044,0.00004582068,0.00558802,0.0001072892,0.002455025],"genre_scores_gemma":[0.9943185,0.0007507062,0.002517203,0.00009815324,0.00005787983,0.00002430541,0.001879161,0.00001758766,0.0003364579],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005635511,"threshold_uncertainty_score":0.01204491,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08240164660513276,"score_gpt":0.4232068951971806,"score_spread":0.3408052485920478,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}