{"id":"W3130957192","doi":"10.1038/s41467-020-20496-3","title":"A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers","year":2021,"lang":"en","type":"article","venue":"Nature Communications","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":39,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; Université Laval; Centre hospitalier universitaire de Québec; McGill University; University of Toronto; Royal Victoria Hospital; Queen's University; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital","funders":"Division of Cancer Epidemiology and Genetics, National Cancer Institute; Medical Research and Materiel Command; NIH Office of the Director; Servicio Gallego de Salud; Instituto de Salud Carlos III; Cancer Council Western Australia; Cancer Council NSW; Cancer Council Victoria; World Cancer Research Fund; European Social Fund; Medical Research Council; Cancer Center, University of Kansas; Division of Cancer Prevention, National Cancer Institute; National Institutes of Health; Hellenic Health Foundation; Freistaat Sachsen; Centro de Investigación Biomédica en Red de Cáncer; Federal Agency for Scientific Organizations; National Institute of General Medical Sciences; Deutschen Konsortium für Translationale Krebsforschung; Universitätsklinikum Hamburg-Eppendorf; Dr. Ralph and Marian Falk Medical Research Trust; Xunta de Galicia; Mutuelle Générale de l'Education Nationale; KWF Kankerbestrijding; Fox Chase Cancer Center; Ministero dello Sviluppo Economico; Cancer Council South Australia; Istituto Oncologico Veneto; Memorial Sloan-Kettering Cancer Center; Centre International de Recherche sur le Cancer; Institut National Du Cancer; National Health and Medical Research Council; Deutsche Krebshilfe; Vetenskapsrådet; National Medical Research Council; Stockholms Läns Landsting; Kuopion Yliopistollinen Sairaala; Associazione Italiana per la Ricerca sul Cancro; Karolinska Institutet; McGill University; Generalitat de Catalunya; University of Southern California; Cancerfonden; Cancer Council Tasmania; Itä-Suomen Yliopisto; Eberhard Karls Universität Tübingen; American Cancer Society; Cancer Australia; Russian Foundation for Basic Research; University of Crete; Ministero della Salute; Institut National de la Santé et de la Recherche Médicale; Deutsche Gesetzliche Unfallversicherung; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Gentofte Hospital; Deutsche Forschungsgemeinschaft; Robert Bosch Stiftung; U.S. Army; Ligue Contre le Cancer; University of Westminster; Canadian Institutes of Health Research; European Commission; Cancer Institute NSW; University College London; Hospital de Câncer de Barretos; National Cancer Institute; European Regional Development Fund; Ministerio de Sanidad, Servicios Sociales e Igualdad; University of Cambridge; Government of Canada; University of Pennsylvania; Stavros Niarchos Foundation; Fondation de France; Georgetown University; Breast Cancer Campaign; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; National Breast Cancer Foundation; Agence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du Travail; National Institute of Environmental Health Sciences; Swedish Cancer Foundation; University of California, Irvine; Newcastle University; David F. and Margaret T. Grohne Family Foundation; Sundhed og Sygdom, Det Frie Forskningsråd; Deutsches Krebsforschungszentrum; Breast Cancer Research Foundation; Ministère du Développement Économique, de l’Innovation et de l’Exportation; Lon V. Smith Foundation; Fundación Mutua Madrileña; California Department of Public Health; Genome Canada; Jewish General Hospital; National Institute for Health and Care Research; University of Chicago; NRG Oncology; Fondation du cancer du sein du Québec; Cancer Research UK; American Breast Cancer Foundation; Beckman Research Institute, City of Hope; Susan G. Komen for the Cure; Beth Israel Deaconess Medical Center; Fundación Cellex; Fisher Center for Alzheimer's Research Foundation; Rheinische Friedrich-Wilhelms-Universität Bonn; Universitair Medisch Centrum Groningen; Oak Foundation; Kansas Bioscience Authority; Institut Català de la Salut; Imperial Experimental Cancer Medicine Centre; Institut Gustave-Roussy; Ohio State University; Royal Marsden NHS Foundation Trust; University of California, San Francisco; U.S. Department of Health and Human Services; Agence Nationale de la Recherche; Ministerio de Economía y Competitividad; National Center for Advancing Translational Sciences; Bundesministerium für Bildung und Forschung; Ovarian Cancer Research Fund; Fonds Wetenschappelijk Onderzoek","keywords":"Breast cancer; Mutation; Genetics; Cancer; Medicine; Biology; Oncology; Gene","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":[0.0009575015,0.0005516473,0.0007768924,0.001522137,0.00147898,0.0007041734,0.000545393,0.0009034189,0.004445365],"category_scores_gemma":[0.005001264,0.0005786979,0.0006493565,0.001043351,0.000594557,0.000423927,0.0006222231,0.0005057503,0.0005976688],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004896498,"about_ca_system_score_gemma":0.0004450795,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006275324,"about_ca_topic_score_gemma":0.005538523,"domain_scores_codex":[0.9988193,0.00033793,0.0001058246,0.0004643514,0.0001558934,0.0001167275],"domain_scores_gemma":[0.9980443,0.0006724855,0.0003670866,0.0004545324,0.00016148,0.0003002572],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009142345,0.0004820916,0.9801892,0.00006608236,0.000395679,0.008017756,0.0006994101,0.00004682599,0.004767666,0.0002452864,0.0006322365,0.003543412],"study_design_scores_gemma":[0.0003021921,0.001730319,0.9498304,0.00005104626,0.0008246092,0.04079805,0.0008244155,0.0005706487,0.001301593,0.0004190486,0.003308015,0.00003965255],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997877,0.0004030245,0.000399957,0.00005704001,0.00001730927,0.00006413626,0.0003016018,0.00001182343,0.0008679698],"genre_scores_gemma":[0.9988151,0.0001153865,0.0002618034,0.00007559573,0.00001710062,0.00004375738,0.0002890241,0.000006544097,0.0003757819],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006275324,"threshold_uncertainty_score":0.01487124,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01996517813212978,"score_gpt":0.361153385981118,"score_spread":0.3411882078489882,"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."}}