{"id":"W2544044666","doi":"10.1007/s10549-016-4018-2","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":"Breast Cancer Research and Treatment","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"St. Michael's Hospital; McGill University and Génome Québec Innovation Centre; McMaster University; Juravinski Hospital; Hôpital du Saint-Sacrement; Juravinski Cancer Centre; University of Toronto; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital; McGill University; Université Laval; Centre hospitalier universitaire de Québec","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; Allele; Locus (genetics); Genetics; Oncology; Biology; Cancer; Medicine; Cancer research; Gene","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":[0.0005087749,0.0003162107,0.0002446409,0.0007785095,0.0002353458,0.0002632667,0.0002413501,0.0003095389,0.001971801],"category_scores_gemma":[0.001324691,0.0001176827,0.0003061036,0.0006122928,0.0002596108,0.00009069077,0.000271881,0.0003261356,0.0001179188],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001504248,"about_ca_system_score_gemma":0.0001384835,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001680359,"about_ca_topic_score_gemma":0.001610346,"domain_scores_codex":[0.9997113,0.00007126322,0.00002438501,0.0001092005,0.00004893512,0.00003480951],"domain_scores_gemma":[0.9992136,0.0003196026,0.000298087,0.00004964972,0.00003412242,0.00008495577],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006598529,0.0000346645,0.9740442,0.00003522926,0.0002252943,0.0004628227,0.00009445432,0.0001792254,0.02009113,0.00006277234,0.00007829642,0.004032052],"study_design_scores_gemma":[0.00002273263,0.00007798085,0.9965899,0.000005772845,0.0001360467,0.001064924,0.00004424584,0.0003554563,0.001484015,0.00005663541,0.0001591255,0.000003216555],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993817,0.0001855453,0.0001696703,0.00001985918,0.000001987388,0.000003769231,0.0001368959,0.00000398062,0.00009656877],"genre_scores_gemma":[0.9994702,0.00004886596,0.0002199139,0.00001178537,0.000004267149,0.000004610738,0.0001515548,0.000002091131,0.00008675798],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001971801,"threshold_uncertainty_score":0.006596386,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01574854051999944,"score_gpt":0.3010811597831323,"score_spread":0.2853326192631328,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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