{"id":"W4210689349","doi":"10.1001/jamaoncol.2021.6744","title":"Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes","year":2022,"lang":"en","type":"article","venue":"JAMA Oncology","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":190,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; University of Toronto; Mount Sinai Hospital","funders":"Medical Research and Materiel Command; David Geffen School of Medicine, University of California, Los Angeles; European Regional Development Fund; National Cancer Institute; Medisinske fakultet, Universitetet i Oslo; Servicio Gallego de Salud; Universitätsklinikum Hamburg-Eppendorf; Scottish Government; KWF Kankerbestrijding; Det Sundhedsvidenskabelige Fakultet, Københavns Universitet; Instituto de Salud Carlos III; Freistaat Sachsen; Russian Academy of Sciences; Medical Research Council; European Commission; Canadian Institutes of Health Research; Directorate for Biological Sciences; National Institutes of Health; Université de Versailles Saint-Quentin-en-Yvelines; Universitätsklinikum Köln; Akershus Universitetssykehus; National University Health System; Agency for Science, Technology and Research; Universidad de La Sabana; Pomorski Uniwersytet Medyczny W Szczecinie; Institut Gustave-Roussy; Universität zu Köln; Fondazione Italiana per la Ricerca sul Cancro; Medizinischen Hochschule Hannover; Kreftforeningen; Institut National Du Cancer; Leids Universitair Medisch Centrum; Karolinska Institutet; Associazione Italiana per la Ricerca sul Cancro; Deutsche Krebshilfe; National Health and Medical Research Council; Universiti Malaya; Norges Forskningsråd; National Medical Research Council; Stockholms Läns Landsting; Sundhed og Sygdom, Det Frie Forskningsråd; Saint Petersburg State University; Kuopion Yliopistollinen Sairaala; University of Toronto; Pontificia Universidad Javeriana; King's College London; Gentofte Hospital; Deutsche Forschungsgemeinschaft; Deutsche Gesetzliche Unfallversicherung; Alexander von Humboldt-Stiftung; Cancerfonden; Cancer Council Victoria; University of Melbourne; Robert Bosch Stiftung; Programme Grants for Applied Research; Manchester Biomedical Research Centre; Monash University; Itä-Suomen Yliopisto; Eberhard Karls Universität Tübingen; Universiteit Leiden; Cancer Research Institute; University of Crete; Institut National de la Santé et de la Recherche Médicale; Institute of Genetics; Wellcome Trust; Agence Nationale de la Recherche; Lunds Universitet; Faculty of Health and Medical Sciences, University of Western Australia; Cancer Research UK; National University of Singapore; National Research Foundation Singapore; National Institute for Health and Care Research; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; National Research Foundation; Chief Scientist Office, Scottish Government Health and Social Care Directorate; Bundesministerium für Bildung und Forschung; Genome Institute of Singapore; National Breast Cancer Foundation; QIMR Berghofer Medical Research Institute; Research Promotion Foundation; Engineering and Physical Sciences Research Council; Fondation de France; University of Cambridge; Government of Canada; Breast Cancer Research Trust; Fondation du cancer du sein du Québec; Duke-NUS Medical School; Huntsman Cancer Institute; Scottish Funding Council; Instituto de Investigación Sanitaria de Santiago de Compostela; Deutsches Krebsforschungszentrum; Helsingin Yliopisto; Genome Canada; University of California, San Diego; Universitetet i Oslo; University of Oxford; Cancer Council NSW; Susan G. Komen for the Cure","keywords":"Medicine; Germline; Breast cancer; Gene; Germline mutation; Cancer; Pathology; Oncology; Genetics; Internal medicine; Mutation; 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":[0.0006216303,0.0002242363,0.000164723,0.001690951,0.0002901572,0.0005100911,0.0002317858,0.0002678003,0.00177558],"category_scores_gemma":[0.00127163,0.0001940471,0.000273466,0.0008209066,0.0003149042,0.0001692178,0.0004022743,0.0001708286,0.0001639883],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001709455,"about_ca_system_score_gemma":0.0001475928,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007897456,"about_ca_topic_score_gemma":0.001189967,"domain_scores_codex":[0.999688,0.0000627812,0.00005403867,0.00008921442,0.00006515784,0.0000408624],"domain_scores_gemma":[0.9987217,0.0002140542,0.0007854624,0.00008316919,0.000111079,0.00008456177],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002763511,0.00001564176,0.9812323,0.00003920008,0.0001013067,0.00126635,0.0000954694,0.00005007276,0.01466353,0.00005096895,0.00008126209,0.002127574],"study_design_scores_gemma":[0.00001569058,0.0001070046,0.9856733,0.00001715194,0.00009205314,0.01052227,0.0002201253,0.0001311761,0.002736001,0.0001006788,0.0003797817,0.000004853559],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987031,0.0005427169,0.0001855005,0.0000148812,0.000002795271,0.000005489661,0.0001741917,0.000007003654,0.0003644719],"genre_scores_gemma":[0.9993001,0.0001820469,0.000237541,0.00001170697,0.000004453342,0.000003941704,0.0001825664,0.000002597819,0.00007500201],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00177558,"threshold_uncertainty_score":0.00593996,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01116760055394735,"score_gpt":0.2814819573539547,"score_spread":0.2703143568000074,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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