{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003285398,0.0001342451,0.000192319,0.00004444048,0.0005841721,0.000008495863,0.0008823943,0.0001145812,0.0004162857],"category_scores_gemma":[0.00005700609,0.0001411563,0.0001393193,0.0001305384,0.00022504,0.000004056109,0.0006557273,0.0001473175,0.000005670639],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005516104,"about_ca_system_score_gemma":0.0003298465,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008937349,"about_ca_topic_score_gemma":0.000117383,"domain_scores_codex":[0.9987679,0.0003530646,0.0003221416,0.0002672325,0.00005377308,0.0002359556],"domain_scores_gemma":[0.9982248,0.00006398976,0.0002535054,0.001238859,0.0001589505,0.00005988131],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001251227,0.001326191,0.3261856,0.00009965333,0.00264984,0.000002877862,0.003743855,0.004295319,0.4372709,0.2010792,0.009538052,0.01255718],"study_design_scores_gemma":[0.01138425,0.002817548,0.08592518,0.00004672537,0.00140503,0.00147647,0.01624475,0.005653914,0.03456899,0.04547615,0.7920065,0.00299452],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9770262,0.002163794,0.00314177,0.001345849,0.0004540348,0.0006559379,0.01223702,0.00002429979,0.002951113],"genre_scores_gemma":[0.9936797,0.001290425,0.002551406,0.0002136625,0.00006330237,0.0004754361,0.001237932,0.00002183885,0.0004662687],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7824684,"threshold_uncertainty_score":0.5756185,"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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