{"id":"W2918113141","doi":"10.1038/s41416-019-0393-x","title":"Genome-wide association study of germline variants and breast cancer-specific mortality","year":2019,"lang":"en","type":"review","venue":"British Journal of Cancer","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":73,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; BC Cancer Agency; Centre hospitalier universitaire de Québec; Sinai Health System; University of British Columbia; Centre hospitalier de l'Université Laval; Vancouver General Hospital; Mount Sinai Hospital; Lunenfeld-Tanenbaum Research Institute; Public Health Ontario; University Health Network; University of Toronto","funders":"Servicio Gallego de Salud; Programme Grants for Applied Research; Biotieteiden ja Ympäristön Tutkimuksen Toimikunta; Instituto de Salud Carlos III; Medical Research Council; Imperial Experimental Cancer Medicine Centre; National Institutes of Health; Hellenic Health Foundation; Freistaat Sachsen; Deutschen Konsortium für Translationale Krebsforschung; Xunta de Galicia; Rheinische Friedrich-Wilhelms-Universität Bonn; Mutuelle Générale de l'Education Nationale; Institut Gustave-Roussy; Ministero dello Sviluppo Economico; Centers for Disease Control and Prevention; Institut National Du Cancer; Canadian Institutes of Health Research; Sigrid Juséliuksen Säätiö; National Health and Medical Research Council; Oulun Yliopisto; Deutsche Krebshilfe; KWF Kankerbestrijding; Vetenskapsrådet; Stockholms Läns Landsting; Ligue Contre le Cancer; Kuopion Yliopistollinen Sairaala; Karolinska Institutet; Ovarian Cancer Research Fund; Bundesministerium für Bildung und Forschung; Ministerio de Economía y Competitividad; Air Force Materiel Command; European Regional Development Fund; King's College London; Academy of Finland; Russian Foundation for Basic Research; University of Crete; Institut National de la Santé et de la Recherche Médicale; Cancer Australia; Agence Nationale de la Recherche; National Institute on Aging; Robert Bosch Stiftung; University of Westminster; European Commission; Cancerfonden; National Cancer Institute; Breast Cancer Now; Cancer Institute NSW; Fondation de France; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; Breast Cancer Campaign; Eberhard Karls Universität Tübingen; Fondation du cancer du sein du Québec; National Breast Cancer Foundation; Agence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du Travail; Swedish Cancer Foundation; Agency for Science, Technology and Research; Lon V. Smith Foundation; Ministère du Développement Économique, de l’Innovation et de l’Exportation; Gentofte Hospital; Deutsche Gesetzliche Unfallversicherung; University of California, Irvine; Kreftforeningen; David F. and Margaret T. Grohne Family Foundation; Cancer Research UK; U.S. Department of Defense; National Heart, Lung, and Blood Institute; Itä-Suomen Yliopisto; Genome Canada; Sundhed og Sygdom, Det Frie Forskningsråd; Centre International de Recherche sur le Cancer; Deutsches Krebsforschungszentrum; World Cancer Research Fund; Helsingin ja Uudenmaan Sairaanhoitopiiri; Susan G. Komen for the Cure; Stavros Niarchos Foundation; University of Southern California; Associazione Italiana per la Ricerca sul Cancro; Beckman Research Institute, City of Hope; Cancer Council Victoria; California Department of Public Health; Ministerio de Sanidad, Servicios Sociales e Igualdad; University of Cambridge; Government of Canada; U.S. Department of Health and Human Services; American Cancer Society; Breast Cancer Research Foundation; National Institute for Health and Care Research; Norges Forskningsråd; Division of Cancer Prevention, National Cancer Institute","keywords":"Breast cancer; Hazard ratio; Germline; Oncology; Genome-wide association study; Germline mutation; Cancer; Biology; Confidence interval; Internal medicine; Disease; Genetics; Medicine; Gene; Single-nucleotide polymorphism; Mutation; Genotype","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":[0.0005910816,0.0002456603,0.001174848,0.00009360479,0.00005492311,0.00006324141,0.0003123578,0.0003039102,0.0001408048],"category_scores_gemma":[0.00007326459,0.0002649337,0.0002818831,0.0001844206,0.00004212688,0.00001242741,0.0001026357,0.0003546782,0.000001159158],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005167013,"about_ca_system_score_gemma":0.001153578,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003681859,"about_ca_topic_score_gemma":0.001041962,"domain_scores_codex":[0.9977476,0.0002228055,0.001040308,0.000348819,0.0004227158,0.0002177506],"domain_scores_gemma":[0.9968393,0.00005036612,0.002083717,0.0002594549,0.0006814776,0.00008563412],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00004102684,0.0002931585,0.01864271,0.00250855,0.002890261,0.00004540196,0.00006558381,0.0001095324,0.0001252249,4.614706e-7,0.003704464,0.9715736],"study_design_scores_gemma":[0.001113534,0.0001868562,0.1303204,0.003384117,0.001596039,0.0003271918,0.00005277981,5.004715e-7,0.00001399377,0.000005410436,0.8626633,0.000335914],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.06211644,0.9355207,0.00002285717,0.00002856569,0.0008738452,0.0004657727,0.0009226168,0.000002087619,0.00004713575],"genre_scores_gemma":[0.0101935,0.9880927,0.00004304154,0.00003986469,0.001144512,0.0000504629,0.00004323384,0.0000537072,0.0003389542],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9712377,"threshold_uncertainty_score":0.9999803,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03285698338437489,"score_gpt":0.3435886946455268,"score_spread":0.310731711261152,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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