{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003478177,0.0005229406,0.000326162,0.0006718766,0.0003660957,0.0002300312,0.0002277882,0.0004371879,0.003520527],"category_scores_gemma":[0.000887714,0.0001347086,0.0003790697,0.0006802749,0.0002828522,0.00008928571,0.0002213514,0.0003315709,0.0002832011],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001235838,"about_ca_system_score_gemma":0.0001114971,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001593467,"about_ca_topic_score_gemma":0.001067458,"domain_scores_codex":[0.9997727,0.00006296028,0.00002373821,0.00007014797,0.00003888741,0.00003160912],"domain_scores_gemma":[0.9993477,0.0001503419,0.0002950593,0.00004671286,0.00004631195,0.000113761],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002038451,0.00007925672,0.9541625,0.00004905371,0.0003258946,0.003187504,0.0001236078,0.0002136147,0.03508592,0.0001266513,0.0003955539,0.004211959],"study_design_scores_gemma":[0.00004037143,0.0003013749,0.9857877,0.00001907791,0.0002291815,0.009067109,0.00009548022,0.0006461387,0.002971273,0.0001265979,0.0007021412,0.00001355327],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992259,0.000139151,0.0001670548,0.00003279078,0.000006761108,0.000003264367,0.0001691159,0.00001127626,0.0002447157],"genre_scores_gemma":[0.999671,0.00003140547,0.00007747226,0.000009795517,0.000005740082,0.000001475192,0.00008146332,0.00000304802,0.0001185334],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003520527,"threshold_uncertainty_score":0.01177728,"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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