{"id":"W4415680787","doi":"10.1016/j.breast.2025.104619","title":"Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer","year":2025,"lang":"en","type":"article","venue":"The Breast","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University Health Network; Lunenfeld-Tanenbaum Research Institute","funders":"Medical Research and Materiel Command; Division of Graduate Education; NIHR Cambridge Biomedical Research Centre; Servicio Gallego de Salud; Instituto de Salud Carlos III; Cancer Council Tasmania; 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; Xunta de Galicia; Agence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du Travail; Institut National Du Cancer; Deutsche Krebshilfe; Medizinischen Hochschule Hannover; Associazione Italiana per la Ricerca sul Cancro; Fondazione Umberto Veronesi; University of Utah; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; Fondation de France; Ministero della Salute; University of Crete; Kuopion Yliopistollinen Sairaala; University of Wisconsin-Madison; Karolinska Institutet; Deutsche Forschungsgemeinschaft; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Deutsche Gesetzliche Unfallversicherung; Chief Scientist Office, Scottish Government Health and Social Care Directorate; Bundesministerium für Bildung und Forschung; Ministerio de Economía y Competitividad; Cancer Australia; Agence Nationale de la Recherche; Robert Bosch Stiftung; Cancerfonden; National Cancer Institute; Cancer Institute NSW; National Breast Cancer Foundation; European Commission; University of Cambridge; Ministerio de Sanidad, Servicios Sociales e Igualdad; Government of Canada; Wellcome Trust; Fondation du cancer du sein du Québec; KWF Kankerbestrijding; Cancer Research UK; Itä-Suomen Yliopisto; Genome Canada; Deutsches Krebsforschungszentrum; Fondazione AIRC per la ricerca sul cancro ETS; National Institute for Health and Care Research; Scottish Government; Division of Cancer Prevention, National Cancer Institute; Department of Health and Social Care; Freistaat Sachsen; Huntsman Cancer Institute; Agency for Science, Technology and Research; University of Pennsylvania; Scottish Funding Council; Kreftforeningen; Cancer Council South Australia; American Cancer Society; Ministerie van Volksgezondheid, Welzijn en Sport; U.S. Department of Health and Human Services; Breast Cancer Research Foundation; Cancer Council NSW; Susan G. Komen for the Cure; Research Promotion Foundation; European Regional Development Fund; King's College London","keywords":"Breast cancer; Germline; Disease; Cancer; Mutation; Genetic testing","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":[0.0003946845,0.0002159399,0.0004182308,0.0001461038,0.0002355707,0.00006278462,0.00014918,0.0001413967,0.0001257606],"category_scores_gemma":[0.00008810288,0.0001483606,0.0002375077,0.0004610317,0.0001542668,0.00001167613,0.0001790509,0.0001456634,8.524656e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007332773,"about_ca_system_score_gemma":0.0001414562,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003845946,"about_ca_topic_score_gemma":0.01230215,"domain_scores_codex":[0.998612,0.0002007004,0.0002770964,0.0005266815,0.0001546972,0.0002287747],"domain_scores_gemma":[0.9989187,0.0002024979,0.0001270742,0.0003605048,0.0003371721,0.00005408232],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"meta_analysis","study_design_gemma":"observational","study_design_scores_codex":[0.01484147,0.002979262,0.3017381,0.0005788366,0.3975313,0.000008058802,0.01536618,0.011997,0.1411667,0.01038628,0.06302135,0.04038543],"study_design_scores_gemma":[0.002465567,0.00005081482,0.9578944,0.00001994274,0.02058705,0.00003812106,0.001213826,0.001911628,0.008829744,0.005897945,0.0007765499,0.0003144514],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8953978,0.003759363,0.07889065,0.01311421,0.0003725442,0.001724255,0.005935544,0.00002263361,0.0007830146],"genre_scores_gemma":[0.9966525,0.0002411933,0.0002657747,0.0002570048,0.00008725013,0.0006455433,0.0001376708,0.00001518263,0.001697922],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6561562,"threshold_uncertainty_score":0.6864887,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04476582959621345,"score_gpt":0.3426895326240133,"score_spread":0.2979237030277999,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}