{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006878763,0.0001506456,0.0003249119,0.00009969007,0.000081609,0.000004128618,0.0002737142,0.0001976491,0.0004739543],"category_scores_gemma":[0.00008923937,0.0001496774,0.00006798443,0.0003482142,0.0002008932,0.000004329063,0.0002736161,0.0002479853,0.000001279642],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005386086,"about_ca_system_score_gemma":0.001238831,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001968023,"about_ca_topic_score_gemma":0.002872329,"domain_scores_codex":[0.9980927,0.0005786116,0.0003798884,0.0004805894,0.0001541436,0.000314055],"domain_scores_gemma":[0.9990799,0.00005381616,0.0002814053,0.0003680977,0.0001689743,0.0000478018],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0009681126,0.0007974157,0.2328358,0.00001915326,0.0001412628,0.0001766092,0.0003464126,0.006195227,0.7343971,0.00005040515,0.001472562,0.02259994],"study_design_scores_gemma":[0.003537968,0.001471052,0.9747927,0.000013355,0.00005568126,0.000469709,0.0005547575,0.000261906,0.01165548,0.0001373829,0.00673685,0.0003131884],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961916,0.0008271458,0.00005943928,0.001404652,0.0002524179,0.0002520778,0.0007109829,0.00001021431,0.0002914282],"genre_scores_gemma":[0.9979852,0.0001303056,0.0003372123,0.0006856595,0.0001168117,0.0003159027,0.0002414119,0.00002774435,0.0001597063],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7419569,"threshold_uncertainty_score":0.6103669,"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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