{"id":"W6887867881","doi":"10.17863/cam.6739","title":"Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.","year":2016,"lang":"en","type":"article","venue":"Apollo (University of Cambridge)","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Jonsson Comprehensive Cancer Center; National Center for Advancing Translational Sciences; European Regional Development Fund; lékařská fakulta Univerzity Karlovy; University of California, San Francisco; National Institutes of Health; Kerry Group Kuok Foundation; Freistaat Sachsen; National Cancer Institute; Liga Portuguesa Contra o Cancro; Fox Chase Cancer Center; Ministero dello Sviluppo Economico; Medical Research Council; Uppsala Universitet; Institut National Du Cancer; Deutsche Krebshilfe; Sahlgrenska Universitetssjukhuset; Università degli Studi di Firenze; Ovarian Cancer Research Fund; Landspítali Háskólasjúkrahús; Hungarian Scientific Research Fund; National Health and Medical Research Council; Fundación Cellex; Fisher Center for Alzheimer's Research Foundation; Jewish General Hospital; Lunds Universitet; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Ministero della Salute; Generalitat de Catalunya; American Cancer Society; Fonds Wetenschappelijk Onderzoek; Cancer Center, University of Kansas; Cancerfonden; Cancer Association of South Africa; National Breast Cancer Foundation; European Commission; National Institute for Health and Care Research; KWF Kankerbestrijding; Cancer Research UK; Government of Canada; Fondation du cancer du sein du Québec; Memorial Sloan-Kettering Cancer Center; NRG Oncology; Israel Cancer Association; Institut Català de la Salut; University of Pennsylvania; Ministère du Développement Économique, de l’Innovation et de l’Exportation; Associazione Italiana per la Ricerca sul Cancro; Genome Canada; Clalit Health Services; Deutsches Krebsforschungszentrum; Breast Cancer Research Foundation; McGill University; Univerzita Karlova v Praze; NIH Office of the Director; Ministério da Ciência, Tecnologia e Inovação; Dr. Ralph and Marian Falk Medical Research Trust; Kansas Bioscience Authority; Georgetown University; Susan G. Komen for the Cure; Canadian Institutes of Health Research; General Secretariat for Research and Technology; Beth Israel Deaconess Medical Center; Instituto de Salud Carlos III; Ohio State University; Cancer Australia; Fondation ARC pour la Recherche sur le Cancer; Istituto Oncologico Veneto; Royal Marsden NHS Foundation Trust; European Social Fund; University of Chicago; Lietuvos Mokslo Taryba","keywords":"Breast cancer; Single-nucleotide polymorphism; Allele; Locus (genetics); Genetic association; SNP; Gene; Genome-wide association study; Genetic variation","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002388385,0.0002620879,0.0002397513,0.0006808476,0.0002276089,0.0003522173,0.0002816044,0.0004980217,0.002729438],"category_scores_gemma":[0.001468447,0.0001721246,0.0002461676,0.0006707432,0.0003217717,0.0001358994,0.0003356548,0.0004335108,0.0002173798],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001669414,"about_ca_system_score_gemma":0.0001162055,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00234691,"about_ca_topic_score_gemma":0.002062853,"domain_scores_codex":[0.9997765,0.00005410663,0.00001529734,0.00007612922,0.00003791926,0.00004002155],"domain_scores_gemma":[0.9993702,0.0002471762,0.0002181514,0.00004595504,0.00002877966,0.00008978436],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002248165,0.00006375863,0.9554342,0.00002648728,0.0001570618,0.001413865,0.0002020545,0.0001233726,0.03250657,0.0002348106,0.0002967936,0.007292813],"study_design_scores_gemma":[0.00002187494,0.00007328241,0.9966988,0.000004657955,0.00006076976,0.001655693,0.00006585809,0.0002192219,0.0008692208,0.00009289561,0.0002321457,0.000005653951],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989742,0.0003164175,0.0001054773,0.00005979208,0.000006212298,0.000002615529,0.0001560102,0.000006035999,0.0003732083],"genre_scores_gemma":[0.9995137,0.00007097555,0.00008876913,0.0000124511,0.000006127885,0.000002772481,0.00007850525,0.000002814348,0.0002239166],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002729438,"threshold_uncertainty_score":0.009130895,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004701658777739625,"score_gpt":0.204140038058341,"score_spread":0.1994383792806014,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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