{"id":"W2143602377","doi":"10.1038/sj.bjc.6605416","title":"Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)","year":2009,"lang":"en","type":"article","venue":"British Journal of Cancer","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"Cancer Care Ontario; Mount Sinai Hospital; Université Laval; Lunenfeld-Tanenbaum Research Institute; Centre hospitalier universitaire de Québec","funders":"National Cancer Institute; National Health and Medical Research Council; National Institutes of Health; Fondazione Italiana per la Ricerca sul Cancro; Università degli Studi di Torino; Radboud Universitair Medisch Centrum; Deutsche Krebshilfe; Medical Research Council; lékařská fakulta Univerzity Karlovy; Leids Universitair Medisch Centrum; Associazione Italiana per la Ricerca sul Cancro; Odense Universitetshospital; Lunds Universitet; Vlaamse regering; Sahlgrenska Universitetssjukhuset; Erasmus Medisch Centrum; Vrije Universiteit Amsterdam; Universiteit Leiden; Aarhus Universitetshospital; National Institute for Health and Care Research; Russian Foundation for Basic Research; KWF Kankerbestrijding; Cancer Research UK; Université Laval; Royal Marsden NHS Foundation Trust; Compagnia di San Paolo; Huntsman Cancer Institute; National Breast Cancer Foundation; Breast Cancer Research Foundation; Istituto Oncologico Veneto; Aarhus Universitet; Univerzita Karlova v Praze; Alleanza Contro il Cancro; Uppsala Universitet; Ministero dell’Istruzione, dell’Università e della Ricerca; Memorial Sloan-Kettering Cancer Center; Instituto de Salud Carlos III; Radboud Universiteit; Ohio State University; Canadian Institutes of Health Research; Fonds Wetenschappelijk Onderzoek; Universiteit Gent; University of Pennsylvania; Ministero della Salute; Akademiska Sjukhuset; Cancer Care Ontario","keywords":"Breast cancer; Oncology; Medicine; BRCA mutation; SNP; Internal medicine; Allele; Population; Mutation; Cancer; BRCA2 Protein; Genotype; Genetics; Biology; Single-nucleotide polymorphism; Germline mutation; 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":[0.00359686,0.0006839582,0.0005707633,0.0009652803,0.0004852,0.0005129275,0.0008449652,0.0008719453,0.00217722],"category_scores_gemma":[0.007201203,0.0004049626,0.0008451041,0.0008304059,0.0002976195,0.0002055212,0.0003860399,0.0004520105,0.0002013362],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003229712,"about_ca_system_score_gemma":0.0005685548,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004429532,"about_ca_topic_score_gemma":0.002855419,"domain_scores_codex":[0.998599,0.000700217,0.000114369,0.0002755353,0.0002101,0.0001007464],"domain_scores_gemma":[0.9966908,0.001726685,0.0006443921,0.0004284722,0.0003088047,0.0002008154],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004590693,0.0001839151,0.9686415,0.0000956752,0.001465291,0.0008048935,0.0001718821,0.0007824486,0.01370663,0.0001112741,0.000148729,0.009297024],"study_design_scores_gemma":[0.0004976884,0.00209472,0.9818581,0.00002219963,0.002962224,0.002452608,0.0001183994,0.002635418,0.006097806,0.0002241914,0.00101413,0.00002249741],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985827,0.000427432,0.0005689787,0.00005505752,0.00001021201,0.00002123578,0.0001656039,0.00001079755,0.0001579832],"genre_scores_gemma":[0.9983217,0.0001053027,0.0009348712,0.00003961944,0.00001064073,0.00002508606,0.0002517727,0.000006958976,0.00030407],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004429532,"threshold_uncertainty_score":0.01902223,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01815313764229086,"score_gpt":0.303548382174988,"score_spread":0.2853952445326972,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}