{"id":"W6887869202","doi":"10.17863/cam.60425","title":"A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.","year":2020,"lang":"en","type":"article","venue":"Apollo (University of Cambridge)","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Medical Research and Materiel Command; NIH Office of the Director; Servicio Gallego de Salud; Instituto de Salud Carlos III; Cancer Council Western Australia; Cancer Council NSW; Cancer Council Victoria; World Cancer Research Fund; European Social Fund; Medical Research Council; European Commission; Canadian Institutes of Health Research; Division of Cancer Prevention, National Cancer Institute; National Institutes of Health; Hellenic Health Foundation; Freistaat Sachsen; Centro de Investigación Biomédica en Red de Cáncer; Federal Agency for Scientific Organizations; Deutschen Konsortium für Translationale Krebsforschung; Universitätsklinikum Hamburg-Eppendorf; Dr. Ralph and Marian Falk Medical Research Trust; Xunta de Galicia; Mutuelle Générale de l'Education Nationale; KWF Kankerbestrijding; Fox Chase Cancer Center; Ministero dello Sviluppo Economico; Cancer Council South Australia; Istituto Oncologico Veneto; Memorial Sloan-Kettering Cancer Center; Centre International de Recherche sur le Cancer; Institut National Du Cancer; National Health and Medical Research Council; Deutsche Krebshilfe; Vetenskapsrådet; Stockholms Läns Landsting; Kuopion Yliopistollinen Sairaala; Associazione Italiana per la Ricerca sul Cancro; Karolinska Institutet; McGill University; Generalitat de Catalunya; Cancer Center, University of Kansas; University of Southern California; Cancerfonden; Cancer Council Tasmania; Itä-Suomen Yliopisto; Eberhard Karls Universität Tübingen; American Cancer Society; Cancer Australia; Russian Foundation for Basic Research; University of Crete; Ministero della Salute; Institut National de la Santé et de la Recherche Médicale; Deutsche Gesetzliche Unfallversicherung; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Gentofte Hospital; Deutsche Forschungsgemeinschaft; Robert Bosch Stiftung; U.S. Army; Ligue Contre le Cancer; University of Westminster; University College London; Cancer Institute NSW; Hospital de Câncer de Barretos; National Cancer Institute; European Regional Development Fund; Ministerio de Sanidad, Servicios Sociales e Igualdad; 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; National Breast Cancer Foundation; Agence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du Travail; Swedish Cancer Foundation; University of California, Irvine; Newcastle University; David F. and Margaret T. Grohne Family Foundation; Sundhed og Sygdom, Det Frie Forskningsråd; Deutsches Krebsforschungszentrum; Ministère du Développement Économique, de l’Innovation et de l’Exportation; Lon V. Smith Foundation; Fundación Mutua Madrileña; California Department of Public Health; Genome Canada; Jewish General Hospital; National Institute for Health and Care Research; Breast Cancer Research Foundation; University of Chicago; NRG Oncology; Fondation du cancer du sein du Québec; Kansas Bioscience Authority; Institut Català de la Salut; Institut Gustave-Roussy; Cancer Research UK; Beckman Research Institute, City of Hope; Susan G. Komen for the Cure; Beth Israel Deaconess Medical Center; Fundación Cellex; Fisher Center for Alzheimer's Research Foundation; Rheinische Friedrich-Wilhelms-Universität Bonn; Universitair Medisch Centrum Groningen; Oak Foundation; Ohio State University; Royal Marsden NHS Foundation Trust; University of California, San Francisco; U.S. Department of Health and Human Services; Agence Nationale de la Recherche; Ministerio de Economía y Competitividad; National Center for Advancing Translational Sciences; Bundesministerium für Bildung und Forschung; Ovarian Cancer Research Fund; Fonds Wetenschappelijk Onderzoek","keywords":"Mutation; Breast cancer; Genotype; Population; Cancer; Genetic association; Gene; Mutation testing","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001002476,0.0001361661,0.0002192581,0.00007872619,0.000137412,0.000008533779,0.0002501714,0.00007834852,0.00002308676],"category_scores_gemma":[0.00004317975,0.0001810752,0.0001444789,0.000262674,0.0001021781,0.00001076921,0.0001185764,0.00006269451,0.000003299429],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007279151,"about_ca_system_score_gemma":0.0002853856,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003197581,"about_ca_topic_score_gemma":0.001181598,"domain_scores_codex":[0.9990125,0.000067679,0.0001726655,0.0004017506,0.0001660462,0.000179315],"domain_scores_gemma":[0.999051,0.00001714602,0.000202647,0.0002786778,0.0003017056,0.0001488509],"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":[0.0049826,0.0009269455,0.1671771,0.0007030176,0.0045175,0.0006580133,0.04341665,0.04646221,0.5990385,0.0001577974,0.05858174,0.07337788],"study_design_scores_gemma":[0.01700862,0.005628288,0.7127578,0.00009129299,0.00311041,0.001003253,0.1493455,0.008672339,0.08928493,0.00004883159,0.01101401,0.002034748],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9759939,0.0001661131,0.02111818,0.0004931696,0.0001201552,0.0007112377,0.001314404,0.00001088676,0.00007192252],"genre_scores_gemma":[0.9971983,0.00004248346,0.002270212,0.0001213423,0.00009463562,0.000004843188,0.000037736,0.00002143607,0.0002090387],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5455807,"threshold_uncertainty_score":0.7384033,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01560363602929152,"score_gpt":0.2699438117719595,"score_spread":0.254340175742668,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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