{"id":"W2970634756","doi":"10.1038/s41598-019-48804-y","title":"Two truncating variants in FANCC and breast cancer risk","year":2019,"lang":"en","type":"article","venue":"Scientific Reports","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; Université Laval; Centre hospitalier universitaire de Québec; McGill University; University Health Network; University of Toronto; Royal Victoria Hospital; Queen's University; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital","funders":"Fogarty International Center; Servicio Gallego de Salud; Instituto de Salud Carlos III; Cancer Council Western Australia; Cancer Council Victoria; World Cancer Research Fund; Medical Research Council; Manchester Biomedical Research Centre; Center for Agroforestry, University of Missouri; University of California, Irvine; Kerry Group Kuok Foundation; Hellenic Health Foundation; Freistaat Sachsen; Biomedical Research Council; Federal Agency for Scientific Organizations; 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; Imperial Experimental Cancer Medicine Centre; Institut Gustave-Roussy; Ministero dello Sviluppo Economico; Memorial Sloan-Kettering Cancer Center; Centre International de Recherche sur le Cancer; Kreftforeningen; Institut National Du Cancer; National Health and Medical Research Council; Ministry of Education, Science and Technology; Academia Sinica; Deutsche Krebshilfe; Cancer Institute NSW; Medizinischen Hochschule Hannover; Instituto Mexicano del Seguro Social; KWF Kankerbestrijding; Vetenskapsrådet; National Medical Research Council; Norges Forskningsråd; Stockholms Läns Landsting; University of Westminster; Ligue Contre le Cancer; Associazione Italiana per la Ricerca sul Cancro; Karolinska Institutet; University of Southern California; Alexander von Humboldt-Stiftung; Cancerfonden; Itä-Suomen Yliopisto; Eberhard Karls Universität Tübingen; American Cancer Society; Russian Foundation for Basic Research; Kuopion Yliopistollinen Sairaala; University of Crete; Institut National de la Santé et de la Recherche Médicale; Wellcome Trust; Agence Nationale de la Recherche; Japan Agency for Medical Research and Development; Deutsche Gesetzliche Unfallversicherung; Gentofte Hospital; Deutsche Forschungsgemeinschaft; Agency for Science, Technology and Research; Canadian Institutes of Health Research; European Commission; University College London; Stavros Niarchos Foundation; Fondation de France; National Research Foundation; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; Breast Cancer Campaign; National Cancer Institute; European Regional Development Fund; Ministerio de Sanidad, Servicios Sociales e Igualdad; University of Cambridge; Government of Canada; 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; Lon V. Smith Foundation; Ministère du Développement Économique, de l’Innovation et de l’Exportation; Korea Health Industry Development Institute; Claremont Graduate University; McGill University Health Centre; Institute of Biomedical Sciences, Academia Sinica; David F. and Margaret T. Grohne Family Foundation; Consejo Nacional de Ciencia y Tecnología; Sundhed og Sygdom, Det Frie Forskningsråd; Deutsches Krebsforschungszentrum; Breast Cancer Research Foundation; McGill University; Helsingin ja Uudenmaan Sairaanhoitopiiri; Université Laval; National Research Foundation of Korea; California Department of Public Health; Genome Canada; Centre Hospitalier Universitaire de Québec; Rheinische Friedrich-Wilhelms-Universität Bonn; Avon Foundation for Women; Oak Foundation; Breast Cancer Research Trust; Fondation du cancer du sein du Québec; Deutscher Akademischer Austauschdienst; Ministry of Public Health; Yayasan Sime Darby; Instituto de Seguriidad y Servicios Sociales de los Trabadores del Estado; Fonds Wetenschappelijk Onderzoek; Ohio State University; Susan G. Komen for the Cure; Taiwan Biobank; Programme Grants for Applied Research; Robert Bosch Stiftung; U.S. Department of Health and Human Services; Ministerio de Economía y Competitividad; Bundesministerium für Bildung und Forschung; Beckman Research Institute, City of Hope; Ministry of Education, Culture, Sports, Science and Technology; Ovarian Cancer Research Fund; Centers for Disease Control and Prevention; National Institute for Health and Care Research; National Institutes of Health; Division of Cancer Prevention, National Cancer Institute; Cancer Research UK","keywords":"Breast cancer; Cancer; Medicine; Bioinformatics; Computational biology; Genetics; Biology; Oncology","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":[0.002114678,0.0003291875,0.0003793386,0.001031552,0.0003061981,0.0003747295,0.0003531063,0.0008247771,0.00156703],"category_scores_gemma":[0.00863966,0.000178893,0.0004429521,0.0007608181,0.000502055,0.0002058036,0.0003589292,0.0003704706,0.0001687586],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003033601,"about_ca_system_score_gemma":0.0002371862,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002623552,"about_ca_topic_score_gemma":0.00159326,"domain_scores_codex":[0.9986994,0.0006731741,0.00009541458,0.0002644845,0.0001731841,0.00009435839],"domain_scores_gemma":[0.9961386,0.002016108,0.00090296,0.0003291503,0.00023409,0.0003791269],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001385053,0.00004476214,0.9853276,0.00003550353,0.0003048101,0.0004737919,0.0001205799,0.0002335674,0.002836058,0.000163957,0.0001505422,0.008923613],"study_design_scores_gemma":[0.00004232883,0.0002152938,0.9963461,0.00001912327,0.0002144379,0.001654012,0.00004793202,0.0003425058,0.000486601,0.0003284555,0.0002936839,0.000009445504],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971734,0.001897497,0.0002425329,0.0001363098,0.000009019399,0.000005884728,0.00009959728,0.00000696423,0.0004287386],"genre_scores_gemma":[0.9993467,0.0002236363,0.0001803609,0.00002876581,0.00001282963,0.000003521946,0.00009830483,0.000002193865,0.0001036324],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002623552,"threshold_uncertainty_score":0.01118362,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006439218660038404,"score_gpt":0.268596929141755,"score_spread":0.2621577104817167,"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."}}