{"id":"W6963156640","doi":"10.17863/cam.56822","title":"Two truncating variants in FANCC and breast cancer risk","year":2019,"lang":"en","type":"article","venue":"Apollo (University of Cambridge)","topic":"DNA Repair Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"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; 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; 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; Kerry Group Kuok Foundation; 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; Centers for Disease Control and Prevention; National Institute for Health and Care Research; 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; National Institutes of Health; Division of Cancer Prevention, National Cancer Institute; Cancer Research UK","keywords":"PALB2; Fanconi anemia; Breast cancer; Genotype; Gene; BRCA2 Protein; Cancer","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001203357,0.00008087579,0.0001309544,0.00004711074,0.00003801704,0.000004432796,0.0001244996,0.00006810654,0.00003799245],"category_scores_gemma":[0.000007590336,0.0001013398,0.00004380382,0.00008057349,0.00005204089,0.000008959557,0.0001323852,0.00006472371,0.000009295806],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001681724,"about_ca_system_score_gemma":0.00005248557,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00331291,"about_ca_topic_score_gemma":0.0005966249,"domain_scores_codex":[0.9994303,0.00004058484,0.0000639771,0.0002429021,0.00007684877,0.0001453838],"domain_scores_gemma":[0.9996253,0.00000687576,0.00008635609,0.0001993384,0.00003417865,0.00004800198],"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":[0.0001951072,0.00005192277,0.2483536,0.00004286884,0.00008321933,0.00001099518,0.0002502616,0.00006495186,0.7394326,0.001057051,0.0003639844,0.01009337],"study_design_scores_gemma":[0.003745591,0.000175391,0.9611014,0.0000788728,0.00006005598,0.00004190248,0.002039068,0.001782666,0.02881835,0.00006647544,0.001710055,0.0003801749],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968337,0.0001280327,0.0002617452,0.00009718653,0.00007593485,0.0001137416,0.00008213288,0.000007198818,0.002400273],"genre_scores_gemma":[0.9970444,0.000199734,0.0008709661,0.00003666305,0.00002369479,2.222214e-7,0.00001132967,0.000008546968,0.001804439],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7127478,"threshold_uncertainty_score":0.5008152,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003566656932374871,"score_gpt":0.1971242184386323,"score_spread":0.1935575615062574,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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