{"id":"W6925497781","doi":"10.17863/cam.43480","title":"The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.","year":2019,"lang":"en","type":"article","venue":"Apollo (University of Cambridge)","topic":"Financial Markets and Investment Strategies","field":"Economics, Econometrics and Finance","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Servicio Gallego de Salud; Instituto de Salud Carlos III; Cancer Council Western Australia; World Cancer Research Fund; Medical Research Council; Cancer Center, University of Kansas; University of California, Irvine; University of California, San Francisco; Ministero dell'Università e della Ricerca; Hellenic Health Foundation; Institut Català de la Salut; Centro de Investigación Biomédica en Red de Cáncer; Federal Agency for Scientific Organizations; Liga Portuguesa Contra o Cancro; Ministero dello Sviluppo Economico; Uppsala Universitet; Istituto Oncologico Veneto; Memorial Sloan-Kettering Cancer Center; Institut National Du Cancer; National Health and Medical Research Council; Deutsche Krebshilfe; Mutuelle Générale de l'Education Nationale; Royal Marsden NHS Foundation Trust; Sahlgrenska Universitetssjukhuset; Fondazione Umberto Veronesi; Fox Chase Cancer Center; KWF Kankerbestrijding; Vetenskapsrådet; Stockholms Läns Landsting; Freistaat Sachsen; Royal Adelaide Hospital; Fisher Center for Alzheimer's Research Foundation; Peter MacCallum Cancer Centre; Kuopion Yliopistollinen Sairaala; Associazione Italiana per la Ricerca sul Cancro; Karolinska Institutet; Linköpings Universitet; Hungarian Scientific Research Fund; University of Southern California; Cancerfonden; Landspítali Háskólasjúkrahús; Ministerio de Economía y Competitividad; National Center for Advancing Translational Sciences; Bundesministerium für Bildung und Forschung; Imperial College London; Gentofte Hospital; Fondation ARC pour la Recherche sur le Cancer; American Cancer Society; Cancer Australia; Russian Foundation for Basic Research; Monash University; University of Crete; Ministero della Salute; Institut National de la Santé et de la Recherche Médicale; Deutsche Gesetzliche Unfallversicherung; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Deutsche Forschungsgemeinschaft; Deutscher Akademischer Austauschdienst; Programme Grants for Applied Research; Robert Bosch Stiftung; Ligue Contre le Cancer; Invitae; University of Westminster; Agence Nationale de la Recherche; National Breast Cancer Foundation; McGill University; Generalitat de Catalunya; Cancer Institute NSW; University College London; Hospital de Câncer de Barretos; Umeå Universitet; Institució Catalana de Recerca i Estudis Avançats; Centres de Recerca de Catalunya; National Cancer Institute; European Regional Development Fund; Ministerio de Sanidad, Servicios Sociales e Igualdad; University of Cambridge; Nemzeti Kutatási Fejlesztési és Innovációs Hivatal; Government of Canada; Stavros Niarchos Foundation; University of Pennsylvania; Fondation de France; Georgetown University; Breast Cancer Campaign; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; Agence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du Travail; Swedish Cancer Foundation; David F. and Margaret T. Grohne Family Foundation; California Department of Public Health; Westmead Millennium Institute for Medical Research; Deutsches Krebsforschungszentrum; Breast Cancer Research Foundation; Helsingin ja Uudenmaan Sairaanhoitopiiri; Ministère du Développement Économique, de l’Innovation et de l’Exportation; Fundación Mutua Madrileña; Lon V. Smith Foundation; Genome Canada; Itä-Suomen Yliopisto; Centers for Disease Control and Prevention; Jewish General Hospital; National Institute for Health and Care Research; National Institutes of Health; Division of Cancer Prevention, National Cancer Institute; University of Chicago; NRG Oncology; Fondation du cancer du sein du Québec; Beckman Research Institute, City of Hope; Xunta de Galicia; Dr. Ralph and Marian Falk Medical Research Trust; Canadian Institutes of Health Research; European Commission; AstraZeneca; Kansas Bioscience Authority; Institut Gustave-Roussy; Fundación Cellex; Oak Foundation; Sundhed og Sygdom, Det Frie Forskningsråd; Ohio State University; U.S. Department of Health and Human Services; Cancer Research UK; Susan G. Komen for the Cure; Pfizer; Fanconi Anemia Research Fund; Fonds Wetenschappelijk Onderzoek","keywords":"CHEK2; Breast cancer; PALB2; Germline; Cancer; Disease; Olaparib; Germline mutation; Genetic predisposition; BRCA2 Protein","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":[0.0003051816,0.0005261159,0.0003821334,0.0005218439,0.0004276282,0.0005404477,0.0002977276,0.001163782,0.009057866],"category_scores_gemma":[0.001369769,0.0001280899,0.0004317323,0.0005850997,0.0003099692,0.0001783476,0.0002386122,0.0007984084,0.001062165],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002249099,"about_ca_system_score_gemma":0.0001942283,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003797608,"about_ca_topic_score_gemma":0.002760182,"domain_scores_codex":[0.9998317,0.00003398837,0.00001485458,0.00005282648,0.00003231707,0.00003424762],"domain_scores_gemma":[0.9993414,0.0002320223,0.0002407692,0.00003645118,0.00003707841,0.0001122751],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.02049786,0.0004677114,0.7081828,0.000624123,0.001652881,0.03491413,0.0006730087,0.00214719,0.1218186,0.004553796,0.0319657,0.07250216],"study_design_scores_gemma":[0.0005670047,0.0005337836,0.9260762,0.0002829636,0.0008992711,0.03526531,0.000280636,0.004401901,0.006718906,0.0054203,0.01944499,0.0001088452],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9882591,0.002335721,0.0009007209,0.001883174,0.0002974041,0.00001373459,0.002306592,0.00009235054,0.003911169],"genre_scores_gemma":[0.9975147,0.0001923346,0.0002600142,0.0002073344,0.0001240423,0.000005736463,0.0003818372,0.00002032167,0.001293707],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009057866,"threshold_uncertainty_score":0.03030163,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009638298963793446,"score_gpt":0.1691443367382291,"score_spread":0.1595060377744357,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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