{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003333216,0.0001890561,0.0002672542,0.0001182818,0.00003637694,0.000002765292,0.0003094814,0.0002017188,0.0002318288],"category_scores_gemma":[0.0002152308,0.0001388056,0.0000561258,0.0002565721,0.0003846744,0.000002047341,0.00009040719,0.00009839661,0.000005228083],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001442334,"about_ca_system_score_gemma":0.0002269136,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002327721,"about_ca_topic_score_gemma":0.0004688223,"domain_scores_codex":[0.998439,0.0001065343,0.0004558683,0.0004090024,0.0002700434,0.0003195979],"domain_scores_gemma":[0.9988999,0.00003750828,0.0002379946,0.000515979,0.0002160286,0.00009262131],"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":[0.0001186653,0.00009448645,0.3383028,0.00002824731,0.0001876748,0.000004136178,0.0003030952,0.002604024,0.5766811,0.0000204787,0.008058808,0.07359649],"study_design_scores_gemma":[0.004953892,0.0004892126,0.8849882,0.0003127373,0.0001537815,0.00002180296,0.000207386,0.0005135844,0.09917907,0.0009937488,0.007721305,0.0004652931],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9896994,0.005224539,0.002582179,0.001083151,0.0004733392,0.0002085142,0.0001988023,0.000009856201,0.0005202693],"genre_scores_gemma":[0.9887242,0.009150375,0.000982491,0.0002048001,0.0004056629,0.00005558585,0.00001714606,0.00003753884,0.0004222322],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5466855,"threshold_uncertainty_score":0.5660328,"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."}}