{"id":"W2528508895","doi":"10.1038/gim.2016.147","title":"Genetic modifiers of CHEK2*1100delC-associated breast cancer risk","year":2016,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":87,"is_retracted":false,"has_abstract":false,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; Public Health Ontario; University of Toronto; Mount Sinai Hospital","funders":"Medical Research and Materiel Command; National Cancer Institute; Cancer Council Victoria; Cancer Council South Australia; Medical Research Council; U.S. Army; Fonds Wetenschappelijk Onderzoek; Cancer Council NSW; National Health and Medical Research Council; Norges Forskningsråd; Breast Cancer Research Foundation; University of Cambridge; Wellcome Trust; Cancer Research UK; Lon V. Smith Foundation; National Institute for Health and Care Research; Cancer Council Tasmania; David F. and Margaret T. Grohne Family Foundation; National Institutes of Health; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; National Breast Cancer Foundation; Francis Crick Institute; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; European Commission","keywords":"CHEK2; Breast cancer; Medicine; Oncology; Genetics; Biology; Internal medicine; Cancer; Gene; Mutation; Germline mutation","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0002607648,0.0006257423,0.0004275039,0.001230481,0.0004360464,0.0004992942,0.000656809,0.0009786629,0.00501644],"category_scores_gemma":[0.002265123,0.0002403413,0.0005278941,0.001442833,0.0003350833,0.0002479857,0.0003385296,0.0007591376,0.0004894583],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003853157,"about_ca_system_score_gemma":0.0003307604,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003863229,"about_ca_topic_score_gemma":0.002681859,"domain_scores_codex":[0.9996324,0.00008391352,0.00004295495,0.00009644333,0.00007987035,0.0000645016],"domain_scores_gemma":[0.9989298,0.0003547664,0.0003981978,0.00008533044,0.00007869619,0.0001531263],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002008416,0.000194478,0.9442922,0.00007821978,0.0005340183,0.007076031,0.0001861044,0.0006277388,0.02955574,0.0007249223,0.001241604,0.0134804],"study_design_scores_gemma":[0.00004347763,0.000112417,0.9844013,0.00003047683,0.0003367254,0.007750295,0.0001240137,0.001361793,0.00387025,0.0005641737,0.00137688,0.00002824609],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947678,0.001064294,0.0004484432,0.0003685793,0.00005199973,0.00001424509,0.0008967965,0.00005678869,0.00233114],"genre_scores_gemma":[0.9987981,0.0001591902,0.0002486716,0.00004005494,0.00003240928,0.000007083088,0.0002134873,0.00001227211,0.0004886499],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00501644,"threshold_uncertainty_score":0.01678169,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01187880707123472,"score_gpt":0.2860563638507556,"score_spread":0.2741775567795209,"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."}}