{"id":"W4382062614","doi":"10.3390/cancers15133313","title":"Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases","year":2023,"lang":"en","type":"article","venue":"Cancers","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Lunenfeld-Tanenbaum Research Institute; University Health Network; Mount Sinai Hospital","funders":"Medical Research and Materiel Command; Servicio Gallego de Salud; Instituto de Salud Carlos III; Cancer Council Tasmania; Cancer Council South Australia; National Health and Medical Research Council; Medical Research Council; Canadian Institutes of Health Research; Programme Grants for Applied Research; Manchester Biomedical Research Centre; U.S. Army; National Institutes of Health; Cancer Council Victoria; Ministry of Science and Higher Education of the Russian Federation; Syöpäsäätiö; Agence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du Travail; Xunta de Galicia; Fondazione Italiana per la Ricerca sul Cancro; Deutsche Krebshilfe; Medizinischen Hochschule Hannover; Centers for Disease Control and Prevention; Institut National Du Cancer; Leids Universitair Medisch Centrum; Associazione Italiana per la Ricerca sul Cancro; Fondazione Umberto Veronesi; KWF Kankerbestrijding; University of Crete; Stockholms Läns Landsting; Ligue Contre le Cancer; Kuopion Yliopistollinen Sairaala; Karolinska Institutet; Gentofte Hospital; Deutsche Gesetzliche Unfallversicherung; Deutsche Forschungsgemeinschaft; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Russian Foundation for Basic Research; Universiteit Leiden; Cancer Australia; Agence Nationale de la Recherche; Huntsman Cancer Foundation; Robert Bosch Stiftung; Agency for Science, Technology and Research; Cancerfonden; National Cancer Institute; Cancer Institute NSW; Cancer Council Western Australia; European Commission; Ministerio de Sanidad, Servicios Sociales e Igualdad; Government of Canada; University of Cambridge; Fondation de France; University of Utah; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; Wellcome Trust; Fondation du cancer du sein du Québec; Freistaat Sachsen; Huntsman Cancer Institute; Hamburger Krebsgesellschaft; Cancer Research UK; King’s College London; Scottish Funding Council; Susan G. Komen; Chief Scientist Office, Scottish Government Health and Social Care Directorate; Bundesministerium für Bildung und Forschung; National Breast Cancer Foundation; Transcan; Deutsches Krebsforschungszentrum; Sundhed og Sygdom, Det Frie Forskningsråd; Consejo Nacional de Ciencia y Tecnología; Norges Forskningsråd; Division of Cancer Prevention, National Cancer Institute; Scottish Government; Intermountain Healthcare; Genome Canada; Itä-Suomen Yliopisto; Kreftforeningen; Uddannelses- og Forskningsministeriet; Gesellschaft der Freunde der Medizinischen Hochschule Hannover; Research Promotion Foundation; European Regional Development Fund; King's College London; Cancer Council NSW; Susan G. Komen for the Cure; National Institute for Health and Care Research; Ministerie van Volksgezondheid, Welzijn en Sport; U.S. Department of Health and Human Services","keywords":"Germline; Breast cancer; Cancer; Cohort; Medicine; Founder effect; Oncology; Biology; Internal medicine; Genetics; Gene; Genotype","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":[0.0004356883,0.0002628365,0.0003898844,0.001532991,0.0004444318,0.0003818279,0.0002215161,0.0003900747,0.001540731],"category_scores_gemma":[0.001256729,0.000217626,0.0003124796,0.001161571,0.0003460991,0.0002146721,0.0004346755,0.0001357803,0.0002566433],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002067485,"about_ca_system_score_gemma":0.0001267652,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00356952,"about_ca_topic_score_gemma":0.002285282,"domain_scores_codex":[0.9996318,0.00006745003,0.00006133044,0.0001094857,0.00006208831,0.00006785658],"domain_scores_gemma":[0.9996353,0.00008625172,0.0001401232,0.00004267978,0.00003912925,0.00005645806],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001392838,0.0000178181,0.9946009,0.000008294313,0.00004531693,0.0007868814,0.0001518229,0.00008259033,0.001723659,0.00003299204,0.0001048551,0.002305635],"study_design_scores_gemma":[0.000007380445,0.00004055481,0.9956518,0.000005485429,0.00002881251,0.003257433,0.0001533703,0.0001445066,0.0003335169,0.00003908853,0.0003332197,0.000004932916],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995006,0.0001141789,0.00006127972,0.00000753602,9.765481e-7,0.000002176924,0.0001372431,0.000003410357,0.0001726083],"genre_scores_gemma":[0.9993599,0.000108457,0.00008098628,0.00001047649,0.000003305805,0.000005856123,0.0002957708,0.000003113615,0.0001320769],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00356952,"threshold_uncertainty_score":0.007097483,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01710944208385757,"score_gpt":0.280830115038322,"score_spread":0.2637206729544644,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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