{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001192452,0.0003696013,0.0002789528,0.0007396043,0.0002801565,0.0003274326,0.0002954181,0.000678819,0.002726077],"category_scores_gemma":[0.004609633,0.0001597662,0.0003302887,0.00060023,0.000305119,0.0001501969,0.0002839037,0.0003283372,0.0002348678],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002193588,"about_ca_system_score_gemma":0.000174793,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002034273,"about_ca_topic_score_gemma":0.001078583,"domain_scores_codex":[0.9992973,0.0002864428,0.00006167744,0.0001843214,0.0001115509,0.00005879653],"domain_scores_gemma":[0.9978902,0.0009638213,0.0005497977,0.0001605555,0.0001801855,0.0002554172],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0010613,0.00004925218,0.9917699,0.00002295837,0.0002256557,0.0003097066,0.00006510335,0.0001343465,0.002648762,0.00005662068,0.0001229877,0.00353341],"study_design_scores_gemma":[0.00004436915,0.0002329593,0.996097,0.00001473566,0.0002184237,0.001599509,0.0000376035,0.0005018795,0.0008757326,0.0001344688,0.0002367419,0.000006534845],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990171,0.0004587676,0.0001668642,0.00004105403,0.000005265511,0.000004398023,0.000104823,0.000005101144,0.0001966317],"genre_scores_gemma":[0.9996099,0.00005150449,0.0001240423,0.00001278795,0.000006056649,0.000002595591,0.0001071108,0.000001638835,0.0000843563],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002726077,"threshold_uncertainty_score":0.00911963,"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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