{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001202618,0.0003996937,0.0003267836,0.002032212,0.0002309742,0.0005561729,0.000493878,0.000512843,0.001625315],"category_scores_gemma":[0.006334076,0.0002004753,0.0004713821,0.0008376214,0.0003561579,0.0002918023,0.0003529386,0.0003282339,0.0001862197],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000215722,"about_ca_system_score_gemma":0.0001932618,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001746586,"about_ca_topic_score_gemma":0.001195915,"domain_scores_codex":[0.9992378,0.0002658242,0.00005661474,0.0002186131,0.0001555708,0.0000656398],"domain_scores_gemma":[0.9969574,0.001885553,0.0006125495,0.0001924787,0.0001349987,0.0002170164],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00166061,0.00004530692,0.9625711,0.00002848683,0.0003231025,0.0007140073,0.0001472076,0.0004694136,0.0251386,0.0001350164,0.00006952551,0.008697659],"study_design_scores_gemma":[0.00002458598,0.000316594,0.9914525,0.000003950453,0.0002606614,0.001544624,0.00005934205,0.002516817,0.003398484,0.0001748773,0.0002375911,0.00001005723],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985458,0.0003492365,0.0006221926,0.00003054065,0.000003557707,0.000008193607,0.0001538886,0.00001894786,0.0002677624],"genre_scores_gemma":[0.9991523,0.00006061673,0.0004899816,0.000008702629,0.000006790101,0.000005349481,0.0001368873,0.000007178181,0.0001322458],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002032212,"threshold_uncertainty_score":0.006360114,"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."}}