{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0004195068,0.0003883101,0.0003346234,0.00004295497,0.0003866951,0.0001344169,0.0005440362,0.0003729898,0.0002370207],"category_scores_gemma":[0.0000620264,0.0003285279,0.0001512035,0.0002375759,0.0002300508,0.000007541455,0.0001914967,0.0003111289,0.00001326726],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005283836,"about_ca_system_score_gemma":0.000326519,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001021645,"about_ca_topic_score_gemma":0.008457432,"domain_scores_codex":[0.9974636,0.0003012153,0.0004094319,0.0007399519,0.000531043,0.0005547598],"domain_scores_gemma":[0.998035,0.0000705836,0.0003550402,0.0008966197,0.0005111632,0.0001316227],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00007507347,0.0001298159,0.5186328,0.00001181077,0.0006913914,0.000004374362,0.0002473561,0.003065102,0.465997,0.00002992192,0.009177952,0.001937382],"study_design_scores_gemma":[0.001551658,0.000160819,0.9305494,0.00008750452,0.0004112753,0.00001599229,0.00009660771,0.0005443933,0.06245064,0.0002090411,0.003284699,0.0006380119],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9944728,0.0008115528,0.0009291657,0.001549466,0.0002798456,0.0004497867,0.001132045,0.0000377224,0.0003376351],"genre_scores_gemma":[0.9958745,0.0001760615,0.0001685958,0.002025586,0.0004742831,0.0001839454,0.0005731415,0.0001072421,0.0004166899],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4119165,"threshold_uncertainty_score":0.9999167,"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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