{"id":"W2465730694","doi":"10.1186/s13058-016-0718-0","title":"Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus","year":2016,"lang":"en","type":"article","venue":"Breast Cancer Research","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":75,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Centre hospitalier universitaire de Québec; Public Health Ontario; McGill University and Génome Québec Innovation Centre; University Health Network; University of Toronto; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital; Université Laval","funders":"Division of Cancer Epidemiology and Genetics, National Cancer Institute; Medical Research and Materiel Command; Jonsson Comprehensive Cancer Center; NIH Office of the Director; Medisinske fakultet, Universitetet i Oslo; National Cancer Institute; European Regional Development Fund; Norway Grants; Seventh Framework Programme; Instituto de Salud Carlos III; Cancer Council NSW; Cancer Council Victoria; European Social Fund; Medical Research Council; Cancer Center, University of Kansas; University of California, San Francisco; National Institutes of Health; lékařská fakulta Univerzity Karlovy; Institut Català de la Salut; Akershus Universitetssykehus; Liga Portuguesa Contra o Cancro; Ministero dello Sviluppo Economico; Agence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du Travail; Uppsala Universitet; Berth von Kantzows Stiftelse; Radboud Universitair Medisch Centrum; Oulun Yliopisto; Universitetet i Oslo; Universitair Medisch Centrum Groningen; Leids Universitair Medisch Centrum; Biomedical Research Council; Clalit Health Services; Universitetet i Bergen; Stichting Tegen Kanker; Umeå Universitet; Fox Chase Cancer Center; KWF Kankerbestrijding; Ministry of Public Health; National Medical Research Council; Norges Forskningsråd; Stockholms Läns Landsting; U.S. Army; Landspítali Háskólasjúkrahús; Universitätsklinikum Hamburg-Eppendorf; Dr. Ralph and Marian Falk Medical Research Trust; Israel Cancer Association; Deutsche Gesetzliche Unfallversicherung; Herlev Hospital; Linköpings Universitet; Ministry of Health, Labour and Welfare; General Secretariat for Research and Technology; Robert Bosch Stiftung; Universitair Ziekenhuis Gent; Guy's and St Thomas' NHS Foundation Trust; Lunds Universitet; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Ministero della Salute; Ministry of Higher Education, Malaysia; California Breast Cancer Research Program; McGill University; Univerzita Karlova v Praze; Yorkshire Cancer Research; Generalitat de Catalunya; Cancerfonden; Kuopion Yliopistollinen Sairaala; National Health and Medical Research Council; Deutsche Krebshilfe; Ministry of Education, Science and Technology; Academia Sinica; Breakthrough Breast Cancer; Vrije Universiteit Amsterdam; Ministério da Ciência, Tecnologia e Inovação; Ohio State University; Canadian Breast Cancer Research Alliance; Universiteit Leiden; Academy of Finland; Kementerian Sains, Teknologi dan Inovasi; Singapore Eye Research Institute; Associazione Italiana per la Ricerca sul Cancro; Karolinska Institutet; Hungarian Scientific Research Fund; Cancer Association of South Africa; Ligue Contre le Cancer; University of Westminster; VicHealth; Medizinischen Hochschule Hannover; Cancer Institute NSW; Wellcome Trust; Agence Nationale de la Recherche; American Cancer Society; Radboud Universiteit; Cancer Australia; Universiteit Gent; National Breast Cancer Foundation; Fisher Center for Alzheimer's Research Foundation; Prostate Cancer Foundation of Australia; Canadian Institutes of Health Research; Lietuvos Mokslo Taryba; European Commission; University of Cambridge; Breast Cancer Research Trust; Hellenic Cooperative Oncology Group; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; National Research Foundation; Centers for Disease Control and Prevention; Jewish General Hospital; National Institute for Health and Care Research; World Health Organization; National Center for Advancing Translational Sciences; Bundesministerium für Bildung und Forschung; Francis Crick Institute; Cancer Research UK; U.S. Department of Defense; Fundación Mutua Madrileña; Hamburger Krebsgesellschaft; McGill University Health Centre; Institute of Biomedical Sciences, Academia Sinica; David F. and Margaret T. Grohne Family Foundation; Cancer Council South Australia; Istituto Oncologico Veneto; Institut National Du Cancer; Memorial Sloan-Kettering Cancer Center; Kreftforeningen; Breast Cancer Research Foundation; Helsingin ja Uudenmaan Sairaanhoitopiiri; Haukeland Universitetssjukehus; Ministry of Higher Education; Ministère du Développement Économique, de l’Innovation et de l’Exportation; Lon V. Smith Foundation; Georgetown University; Cancer Council Tasmania; Itä-Suomen Yliopisto; NRG Oncology; USC Norris Comprehensive Cancer Center; Pink Ribbons Project; Fondation du cancer du sein du Québec; Kansas Bioscience Authority; Istituto Toscano Tumori; Victorian Cancer Agency; Fondation de France; University of Pennsylvania; Sundhed og Sygdom, Det Frie Forskningsråd; National Research Foundation of Korea; California Department of Public Health; King's College London; Jess and Mildred Fisher Center for Familial Cancer Research; Susan G. Komen for the Cure; Virginia Department of Health; Taiwan Biobank; Sahlgrenska Universitetssjukhuset; Royal Marsden NHS Foundation Trust; U.S. Department of Health and Human Services; Erasmus Medisch Centrum; Ministerio de Economía y Competitividad; Ministry of Education, Culture, Sports, Science and Technology; Ovarian Cancer Research Fund; Deutsches Krebsforschungszentrum; Agency for Science, Technology and Research; University of Chicago; Vanderbilt University; Fonds Wetenschappelijk Onderzoek; Beth Israel Deaconess Medical Center","keywords":"Breast cancer; Surgical oncology; Identification (biology); Locus (genetics); Association (psychology); Genetic association; Computational biology; Medicine; Genome-wide association study; Scale (ratio); Biology; Genetics; Oncology; Internal medicine; Cancer; Single-nucleotide polymorphism; Gene; Genotype; Psychology; Cartography; Geography","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":[],"consensus_categories":[],"category_scores_codex":[0.001060116,0.0001018008,0.0001409301,0.00006366719,0.0001707798,0.00001876508,0.0001957002,0.0001347394,0.0001028945],"category_scores_gemma":[0.0001578546,0.00007066059,0.00007581904,0.0002662077,0.0001992334,0.00002018698,0.0001398094,0.0001091028,0.000001505127],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004107239,"about_ca_system_score_gemma":0.0006946399,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008497523,"about_ca_topic_score_gemma":0.0004621108,"domain_scores_codex":[0.9983046,0.0002288733,0.0003227877,0.0003577911,0.0005319237,0.0002540156],"domain_scores_gemma":[0.9978465,0.0001397754,0.0003702088,0.0002592461,0.001347025,0.00003717227],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0003398872,0.00005878602,0.07500838,0.00006406483,0.0002370695,6.414606e-8,0.0003055997,0.0004387669,0.8926004,0.00005959545,0.002249485,0.02863795],"study_design_scores_gemma":[0.001050218,0.00003557545,0.6561044,0.00009553206,0.00003756006,0.000007788858,0.0002248302,0.00008638683,0.34054,0.001189096,0.0005246014,0.0001040807],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9720221,0.0009297707,0.0128104,0.004880517,0.0003142272,0.0007298921,0.008243002,0.000004863571,0.00006524356],"genre_scores_gemma":[0.9975967,0.0005441389,0.00008578359,0.00002375141,0.0002871016,0.0004479871,0.00001561929,0.00001936343,0.0009795604],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.581096,"threshold_uncertainty_score":0.2881455,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03462626711747816,"score_gpt":0.344233616672075,"score_spread":0.3096073495545968,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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