{"id":"W2158740417","doi":"10.1371/journal.pgen.1003212","title":"Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk","year":2013,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":391,"is_retracted":false,"has_abstract":true,"ca_institutions":"Women's College Hospital; University of Toronto; St. Michael's Hospital; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital; McGill University; McGill University and Génome Québec Innovation Centre; Université Laval; Centre hospitalier universitaire de Québec","funders":"National Institute of Environmental Health Sciences; Norway Grants; Medical Research Council; lékařská fakulta Univerzity Karlovy; National Institutes of Health; National Center for Research Resources; Institut Català de la Salut; Ministero dello Sviluppo Economico; Istituto Oncologico Veneto; Clalit Health Services; Sahlgrenska Universitetssjukhuset; National Cancer Institute; Landspítali Háskólasjúkrahús; Ministère du Développement Économique, de l’Innovation et de l’Exportation; Israel Cancer Association; Hungarian Scientific Research Fund; National Health and Medical Research Council; Ministério da Ciência, Tecnologia e Inovação; Jewish General Hospital; Andrew Sabin Family Foundation; Lunds Universitet; University of California, San Francisco; Ministero della Salute; Canadian Institutes of Health Research; University of California, Los Angeles; Cancerfonden; Cancer Australia; European Regional Development Fund; National Breast Cancer Foundation; Russian Foundation for Basic Research; Cancer Research UK; Breast Cancer Research Foundation; Generalitat de Catalunya; National Institute for Health and Care Research; University of Chicago; McGill University; Univerzita Karlova v Praze; Canadian Breast Cancer Research Alliance; Uppsala Universitet; Memorial Sloan-Kettering Cancer Center; Instituto de Salud Carlos III; Ohio State University; Mayo Clinic","keywords":"Biology; Ovarian cancer; Genome-wide association study; Genetics; Breast cancer; Mutation; Genetic association; Single-nucleotide polymorphism; Cancer; Gene; Genotype","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":[0.001070202,0.0005689646,0.0006378074,0.0009198827,0.0004164399,0.0006169862,0.000413761,0.0008373645,0.002950291],"category_scores_gemma":[0.002502864,0.0002875715,0.0009086788,0.001161405,0.0003728733,0.000232215,0.0004640177,0.0006018551,0.0002853185],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001784245,"about_ca_system_score_gemma":0.000223486,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003219973,"about_ca_topic_score_gemma":0.003647947,"domain_scores_codex":[0.9994401,0.0001427348,0.00004695485,0.0002313699,0.00006323691,0.0000755393],"domain_scores_gemma":[0.9987786,0.000481262,0.0004157788,0.0001209811,0.00005560853,0.0001477836],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001877754,0.0000861787,0.9747548,0.00007675565,0.001549603,0.00151863,0.0002091611,0.0002483013,0.01128237,0.0001632679,0.0007119466,0.007521197],"study_design_scores_gemma":[0.0001140222,0.0001561236,0.9959775,0.00001589653,0.0007340802,0.001024114,0.00007021891,0.0005369235,0.000562217,0.0001920892,0.0006072037,0.000009750599],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976948,0.00119965,0.0002913669,0.00009126418,0.0000186157,0.000008714133,0.0003957189,0.00002274798,0.000277014],"genre_scores_gemma":[0.9986388,0.0003188876,0.0003448733,0.00006037355,0.00002752583,0.00001212908,0.0003286085,0.00001137612,0.0002574795],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003219973,"threshold_uncertainty_score":0.009869695,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009670870435370151,"score_gpt":0.2363026224527638,"score_spread":0.2266317520173937,"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."}}