{"id":"W4303184032","doi":"10.1038/s42003-022-03978-6","title":"Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers","year":2022,"lang":"en","type":"article","venue":"Communications Biology","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Université Laval; Centre hospitalier universitaire de Québec; Mount Sinai Hospital; Lunenfeld-Tanenbaum Research Institute; University of Toronto","funders":"Jonsson Comprehensive Cancer Center; National Center for Advancing Translational Sciences; National Institute of General Medical Sciences; NIHR Cambridge Biomedical Research Centre; National Cancer Institute; European Regional Development Fund; European Commission; Lietuvos Mokslo Taryba; Canadian Institutes of Health Research; lékařská fakulta Univerzity Karlovy; University of California, San Francisco; National Institutes of Health; Kerry Group Kuok Foundation; Freistaat Sachsen; KWF Kankerbestrijding; Fox Chase Cancer Center; Ministry of Health, New Zealand; Ministero dello Sviluppo Economico; European Social Fund; Medical Research Council; Uppsala Universitet; Gray Foundation; Russian Science Foundation; Radboud Universitair Medisch Centrum; National Health and Medical Research Council; Deutsche Krebshilfe; Istituto Oncologico Veneto; Memorial Sloan-Kettering Cancer Center; Institut National Du Cancer; Leids Universitair Medisch Centrum; Amsterdam University Medical Centers; Associazione Italiana per la Ricerca sul Cancro; Hospices Civils de Lyon; Univerzita Karlova v Praze; McGill University; Generalitat de Catalunya; Ministerio de Ciencia e Innovación; Fondation ARC pour la Recherche sur le Cancer; Dr. Ralph and Marian Falk Medical Research Trust; Israel Cancer Association; Ministerstvo Školství, Mládeže a Tělovýchovy; Linköpings Universitet; Korea Health Industry Development Institute; Cancer Association of South Africa; Hungarian Scientific Research Fund; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Beth Israel Deaconess Medical Center; Erasmus Medisch Centrum; Vrije Universiteit Amsterdam; Rijksuniversiteit Groningen; NIH Office of the Director; Institut Claudius Regaud; Maastricht Universitair Medisch Centrum; Ministério da Ciência, Tecnologia e Inovação; Ohio State University; Universiteit Leiden; Ministero della Salute; Institut National de la Santé et de la Recherche Médicale; National Breast Cancer Foundation; Government of Canada; Nemzeti Kutatási Fejlesztési és Innovációs Hivatal; Jewish General Hospital; National Institute for Health and Care Research; Centre Léon Bérard; Liga Portuguesa Contra o Cancro; Hospital de Câncer de Barretos; Institut Gustave-Roussy; University of Pennsylvania; Cancer Australia; American Cancer Society; Radboud Universiteit; Fundación Mutua Madrileña; Ministère du Développement Économique, de l’Innovation et de l’Exportation; Royal Marsden NHS Foundation Trust; Sahlgrenska Universitetssjukhuset; Cancer Research UK; Fondation du cancer du sein du Québec; Wellcome Trust; Genome Canada; Breast Cancer Research Foundation; Unicancer; Clalit Health Services; Deutsches Krebsforschungszentrum; Institut Bergonié; Fonds Wetenschappelijk Onderzoek; Cancer Center, University of Kansas; Cancerfonden; NRG Oncology; Kansas Bioscience Authority; Georgetown University; Susan G. Komen for the Cure; Instituto de Salud Carlos III; Landspítali Háskólasjúkrahús; Ovarian Cancer Research Fund; Health Research Council of New Zealand; Universiteit Maastricht; Fundación Cellex; Fisher Center for Alzheimer's Research Foundation; Royal Society Te Apārangi; Umeå Universitet; University of Chicago; Centro de Investigación Biomédica en Red de Cáncer","keywords":"Breast cancer; Copy-number variation; Genetics; Biology; Cancer research; Oncology; Medicine; Gene; Cancer; Genome","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":[0.000760162,0.0003596072,0.000312948,0.001846882,0.0002016294,0.0005026404,0.0003104672,0.0004258277,0.001685292],"category_scores_gemma":[0.003376245,0.0001771529,0.0003929405,0.0008908075,0.000395134,0.000262811,0.0003498736,0.0002999951,0.0001424264],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001801563,"about_ca_system_score_gemma":0.0001361094,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001497965,"about_ca_topic_score_gemma":0.001343735,"domain_scores_codex":[0.9994987,0.0001542991,0.000033252,0.0001661099,0.00009288078,0.00005465842],"domain_scores_gemma":[0.9987541,0.0006759567,0.0003179487,0.000104948,0.00004317527,0.0001038183],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001133795,0.00003377809,0.9642603,0.00002905648,0.0002964055,0.001347854,0.0002028995,0.0005643944,0.02205153,0.0002298175,0.00009870573,0.009751396],"study_design_scores_gemma":[0.00001575185,0.0001586479,0.9931505,0.000006018808,0.0002026688,0.001709727,0.00008280177,0.001504712,0.002535551,0.000343614,0.0002795138,0.00001059103],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983621,0.0005513048,0.0004844858,0.00003619001,0.000004101399,0.000005445283,0.0001570527,0.0000174854,0.0003819372],"genre_scores_gemma":[0.999552,0.00006339556,0.0002036693,0.000006636132,0.000004340691,0.000002471002,0.00007949886,0.000004759685,0.00008346607],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001846882,"threshold_uncertainty_score":0.005637884,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01462728611562429,"score_gpt":0.2814071098372107,"score_spread":0.2667798237215864,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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