{"id":"W2583663599","doi":"10.1038/ejhg.2016.203","title":"Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers","year":2017,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":40,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital","funders":"National Cancer Institute; Instituto de Salud Carlos III; Canadian Institutes of Health Research; Unicancer; Centre Léon Bérard; Royal Marsden NHS Foundation Trust; Umeå Universitet; Istituto Oncologico Veneto; NIH Office of the Director; Universiteit Leiden; Institut Claudius Regaud; Hospices Civils de Lyon; Institut Bergonié; Deutsche Krebshilfe; Institut National Du Cancer; Leids Universitair Medisch Centrum; Associazione Italiana per la Ricerca sul Cancro; Università degli Studi di Firenze; Linköpings Universitet; Lunds Universitet; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Institut Català de la Salut; University of Pennsylvania; Institut Gustave-Roussy; Sahlgrenska Universitetssjukhuset; Erasmus Medisch Centrum; Vrije Universiteit Amsterdam; National Breast Cancer Foundation; Radboud Universitair Medisch Centrum; Generalitat de Catalunya; National Institute for Health and Care Research; University of California, San Francisco; Creighton University; Fox Chase Cancer Center; Medical Research Council; Uppsala Universitet; Memorial Sloan-Kettering Cancer Center; National Institutes of Health; David F. and Margaret T. Grohne Family Foundation; Fundación Mutua Madrileña; Radboud Universiteit; Kansas Bioscience Authority; National Health and Medical Research Council; Fisher Center for Alzheimer's Research Foundation; Universitair Medisch Centrum Groningen; KWF Kankerbestrijding; Cancer Research UK; Susan G. Komen for the Cure; Georgetown University; Cancer Center, University of Kansas; Cancerfonden; Cancer Australia; Breast Cancer Research Foundation; Ministero della Salute","keywords":"Ovarian cancer; Breast cancer; Copy-number variation; Single-nucleotide polymorphism; Genome-wide association study; Biology; Genetics; Locus (genetics); Allele; Cancer; SNP; Gene; Bioinformatics; Genotype; 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":[0.002564712,0.0001480021,0.0002296831,0.00005583432,0.0002252104,0.00004040483,0.0004108824,0.00006151701,0.00006390287],"category_scores_gemma":[0.0002778397,0.0001445022,0.0001319863,0.0000309588,0.0002418078,0.000009886292,0.0001075288,0.0001064019,8.780597e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005080492,"about_ca_system_score_gemma":0.0005160096,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002875758,"about_ca_topic_score_gemma":0.00003046684,"domain_scores_codex":[0.9982538,0.0004191479,0.0005607036,0.0002158621,0.0003885444,0.0001619001],"domain_scores_gemma":[0.9967018,0.00001363083,0.001380693,0.0005089926,0.00128933,0.0001055705],"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":[0.0004864029,0.000156323,0.02711245,0.0001004656,0.001731483,0.00002279633,0.001666808,0.008900923,0.8705641,0.0001714966,0.002115677,0.08697108],"study_design_scores_gemma":[0.01469922,0.002730482,0.751287,0.0003191983,0.004220086,0.0008547115,0.0008140125,0.002464043,0.2150465,0.002902771,0.003825682,0.000836342],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933834,0.001568198,0.00263183,0.00005682923,0.0003868018,0.0002282535,0.0002678511,0.000001325132,0.001475523],"genre_scores_gemma":[0.9955136,0.0006874572,0.003257192,0.00002304367,0.0003821082,0.000004416594,0.00001094193,0.00004319094,0.00007807975],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7241746,"threshold_uncertainty_score":0.589263,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03196407484274754,"score_gpt":0.3284852730088056,"score_spread":0.2965211981660581,"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."}}