{"id":"W2989510802","doi":"10.1038/s41523-019-0127-5","title":"The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer","year":2019,"lang":"en","type":"article","venue":"npj Breast Cancer","topic":"DNA Repair Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":46,"is_retracted":false,"has_abstract":true,"ca_institutions":"Amgen (Canada); University of British Columbia; University of Toronto; Royal Victoria Hospital; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital; Université Laval; BC Cancer Agency; Centre hospitalier universitaire de Québec; McGill University; Queen's University","funders":"Division of Cancer Epidemiology and Genetics, National Cancer Institute; NIH Office of the Director; Servicio Gallego de Salud; National Cancer Institute; European Regional Development Fund; Cancer Council Victoria; Medical Research Council; European Commission; Lietuvos Mokslo Taryba; Canadian Institutes of Health Research; Imperial Experimental Cancer Medicine Centre; Division of Cancer Prevention, National Cancer Institute; National Institutes of Health; 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; KWF Kankerbestrijding; Fox Chase Cancer Center; Ministero dello Sviluppo Economico; Jewish General Hospital; National Institute for Health and Care Research; Centers for Disease Control and Prevention; Memorial Sloan-Kettering Cancer Center; Istituto Oncologico Veneto; Institut National Du Cancer; National Health and Medical Research Council; Deutsche Krebshilfe; Fondazione Umberto Veronesi; Vetenskapsrådet; Stockholms Läns Landsting; Kuopion Yliopistollinen Sairaala; Ministero della Salute; McGill University; Generalitat de Catalunya; Cancer Center, University of Kansas; University of Southern California; Cancerfonden; Landspítali Háskólasjúkrahús; Ministerio de Economía y Competitividad; National Center for Advancing Translational Sciences; Bundesministerium für Bildung und Forschung; Itä-Suomen Yliopisto; Eberhard Karls Universität Tübingen; Fondation ARC pour la Recherche sur le Cancer; American Cancer Society; Cancer Australia; Russian Foundation for Basic Research; Deutsche Gesetzliche Unfallversicherung; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Deutsche Forschungsgemeinschaft; Deutscher Akademischer Austauschdienst; Programme Grants for Applied Research; Robert Bosch Stiftung; Associazione Italiana per la Ricerca sul Cancro; Karolinska Institutet; Hungarian Scientific Research Fund; Harvard T.H. Chan School of Public Health; Cancer Association of South Africa; Royal Marsden NHS Foundation Trust; Institució Catalana de Recerca i Estudis Avançats; Centres de Recerca de Catalunya; University of Cambridge; Nemzeti Kutatási Fejlesztési és Innovációs Hivatal; Government of Canada; Georgetown University; Breast Cancer Campaign; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; National Breast Cancer Foundation; National Institute of Environmental Health Sciences; Swedish Cancer Foundation; McGill University Health Centre; University of California, Irvine; David F. and Margaret T. Grohne Family Foundation; Deutsches Krebsforschungszentrum; World Cancer Research Fund; Helsingin ja Uudenmaan Sairaanhoitopiiri; Lon V. Smith Foundation; Ministère du Développement Économique, de l’Innovation et de l’Exportation; Fundación Mutua Madrileña; Breast Cancer Research Foundation; University of Chicago; NRG Oncology; Fondation du cancer du sein du Québec; Universitätsklinikum Hamburg-Eppendorf; Dr. Ralph and Marian Falk Medical Research Trust; Kansas Bioscience Authority; Institut Català de la Salut; University of Pennsylvania; Liga Portuguesa Contra o Cancro; University College London; Cancer Research UK; Beckman Research Institute, City of Hope; Susan G. Komen for the Cure; Beth Israel Deaconess Medical Center; Genome Canada; Brigham and Women's Hospital; Instituto de Salud Carlos III; Ohio State University; University of California, San Francisco; U.S. Department of Health and Human Services; Rheinische Friedrich-Wilhelms-Universität Bonn; Oak Foundation; Fisher Center for Alzheimer's Research Foundation; Fanconi Anemia Research Fund; Fonds Wetenschappelijk Onderzoek","keywords":"CHEK2; Breast cancer; PALB2; Triple-negative breast cancer; Biology; Cancer; Olaparib; Cancer research; Genetics; Internal medicine; Oncology; Medicine; Germline mutation; Mutation; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003386037,0.0002570834,0.0002918777,0.00002720208,0.0001548849,0.00003086153,0.0003178841,0.0001778504,0.0004080729],"category_scores_gemma":[0.00005546727,0.0001714949,0.000135225,0.0002056825,0.0001152696,0.00001039451,0.0001050182,0.0001927643,0.00001106377],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001185541,"about_ca_system_score_gemma":0.0004130538,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002535268,"about_ca_topic_score_gemma":0.001523129,"domain_scores_codex":[0.9983448,0.0001436306,0.0002841556,0.0004830241,0.0003278802,0.0004164757],"domain_scores_gemma":[0.9984474,0.00005198821,0.000480025,0.0005284992,0.0004024636,0.00008964185],"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":[0.00399086,0.0004488639,0.2834723,0.0001286399,0.005018554,0.00001434143,0.001547936,0.0008550028,0.6111933,0.0005124898,0.007898851,0.0849189],"study_design_scores_gemma":[0.00690543,0.0005617731,0.6608648,0.0005639035,0.0005391047,0.0001987404,0.000817059,0.001974069,0.3222407,0.0004022138,0.003814184,0.001117974],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.993454,0.0006163624,0.0001358432,0.0006978391,0.0005092007,0.0005493585,0.002538604,0.00002886479,0.001469899],"genre_scores_gemma":[0.9957827,0.0004086248,0.0001356947,0.0002981322,0.0002091485,0.0001504355,0.00002841249,0.0000543008,0.002932492],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3773925,"threshold_uncertainty_score":0.699336,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00440340564138385,"score_gpt":0.2279491848363851,"score_spread":0.2235457791950013,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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