{"id":"W2118903635","doi":"10.1093/hmg/ddu311","title":"Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium","year":2014,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":59,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University Health Centre; Royal Victoria Regional Health Centre; Université Laval; Royal Victoria Hospital; Centre hospitalier universitaire de Québec; Public Health Ontario; University of Toronto; Mount Sinai Hospital; Lunenfeld-Tanenbaum Research Institute; Université de Montréal; Institute of Aging","funders":"Medical Research and Materiel Command; National Cancer Institute; Institute of Biomedical Sciences, Academia Sinica; Universitätsklinikum Hamburg-Eppendorf; Biomedical Research Council; Cancer Council Victoria; Medical Research Council; Canadian Institutes of Health Research; U.S. Army; Centers for Disease Control and Prevention; National Institutes of Health; Rheinische Friedrich-Wilhelms-Universität Bonn; Ministero dello Sviluppo Economico; National Health and Medical Research Council; Oulun Yliopisto; Deutsche Krebshilfe; Medizinischen Hochschule Hannover; Norges Forskningsråd; Singapore Eye Research Institute; National Science Council; Stockholms Läns Landsting; Academia Sinica; Kuopion Yliopistollinen Sairaala; Karolinska Institutet; Ohio State University; National Research Foundation of Korea; National Medical Research Council; Ministério da Ciência, Tecnologia e Inovação; Ministry of Education, Science and Technology; Bundesministerium für Bildung und Forschung; Ministerio de Economía y Competitividad; Kementerian Sains, Teknologi dan Inovasi; Academy of Finland; Cancerfonden; National Breast Cancer Foundation; McGill University; Breast Cancer Research Foundation; University of Cambridge; KWF Kankerbestrijding; Ministry of Public Health; Associazione Italiana per la Ricerca sul Cancro; Beckman Research Institute, City of Hope; Cancer Council Tasmania; World Health Organization; University of Southern California; Fondation du cancer du sein du Québec; Wellcome Trust; Cancer Research UK; National Research Foundation; National Institute for Health and Care Research; European Social Fund; Agency for Science, Technology and Research; Ministère du Développement Économique, de l’Innovation et de l’Exportation; Deutsche Gesetzliche Unfallversicherung; University of California, Irvine; David F. and Margaret T. Grohne Family Foundation; Deutsches Krebsforschungszentrum; Itä-Suomen Yliopisto; California Breast Cancer Research Program; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; Mayo Clinic; U.S. Department of Health and Human Services; Vetenskapsrådet; Susan G. Komen for the Cure; Virginia Department of Health; European Commission","keywords":"Single-nucleotide polymorphism; Breast cancer; Biology; Genome-wide association study; Genetic association; Locus (genetics); Genetics; Case-control study; Odds ratio; Allele; Genotype; Oncology; Internal medicine; Cancer; Medicine; 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":[0.005218653,0.000707674,0.0009361816,0.002042423,0.0009398485,0.001569053,0.0009079021,0.001194118,0.002266338],"category_scores_gemma":[0.0105869,0.0002416999,0.001125835,0.005678444,0.000979103,0.0003966302,0.001798323,0.0009202859,0.000248616],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004469035,"about_ca_system_score_gemma":0.000981465,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.009206838,"about_ca_topic_score_gemma":0.01638691,"domain_scores_codex":[0.9960251,0.001009764,0.000542946,0.001344197,0.0008386982,0.0002392491],"domain_scores_gemma":[0.9899902,0.004370084,0.00255215,0.001057593,0.001118153,0.0009117881],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002134936,0.00006113356,0.9638578,0.0006628323,0.006316475,0.001694006,0.000554091,0.0003282094,0.006452122,0.0003878823,0.00184521,0.01570527],"study_design_scores_gemma":[0.0001761723,0.0001433416,0.99091,0.000126128,0.002300446,0.00208781,0.0003188755,0.0002390067,0.0005625537,0.0004805559,0.002620815,0.00003429549],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9732849,0.01798862,0.002086008,0.0009336216,0.0001002576,0.00007099297,0.003593118,0.00006221209,0.001880283],"genre_scores_gemma":[0.9891311,0.004777269,0.002005734,0.0005157874,0.0001180223,0.00009407843,0.003026491,0.00003631252,0.000295249],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009206838,"threshold_uncertainty_score":0.02759922,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008401990523345193,"score_gpt":0.256710704939447,"score_spread":0.2483087144161018,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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