{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002588553,0.0001258923,0.0005489591,0.00004963384,0.0001440417,0.00001086362,0.0002708785,0.0002240327,0.0001532186],"category_scores_gemma":[0.000813009,0.0001026105,0.0001749004,0.000150493,0.0002430638,0.000006853487,0.0002050438,0.000689937,0.000001048993],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001804762,"about_ca_system_score_gemma":0.002577626,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001827957,"about_ca_topic_score_gemma":0.0001335726,"domain_scores_codex":[0.997509,0.0007144473,0.001008698,0.0002642869,0.0002898478,0.0002137286],"domain_scores_gemma":[0.9976793,0.000291729,0.001376316,0.0001898752,0.0002916148,0.0001711952],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.01054633,0.00424234,0.3410847,0.00002917636,0.006348708,0.0009779972,0.0005582155,0.0102324,0.07153613,0.0002427163,0.1327334,0.4214679],"study_design_scores_gemma":[0.01249062,0.01972659,0.3435275,0.00003205189,0.0006720388,0.0008681102,0.0004230284,0.0001557026,0.001443585,0.0005799494,0.6196246,0.0004562491],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9911028,0.003454242,0.000251721,0.002659655,0.001366102,0.0001200793,0.00006084069,0.000004465337,0.0009800928],"genre_scores_gemma":[0.992777,0.001316767,0.001000094,0.003831718,0.0006936534,0.00002788762,0.00001254668,0.00002508333,0.0003151992],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4868912,"threshold_uncertainty_score":0.4572598,"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."}}