{"id":"W4308372087","doi":"10.1111/nan.12862","title":"Recurrent posterior fossa group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD)","year":2022,"lang":"en","type":"article","venue":"Neuropathology and Applied Neurobiology","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children","funders":"Medical Research Council; Stand Up To Cancer; Medical Research Council Canada; Department of Health and Social Care; National Institute for Health and Care Research; Heart of England NHS Foundation Trust; Cancer Research UK; NIHR Cambridge Biomedical Research Centre; Wellcome Trust; St. Baldrick's Foundation","keywords":"PMS2; MSH6; MSH2; DNA mismatch repair; MLH1; Microsatellite instability; Medulloblastoma; Lynch syndrome; Medicine; Germline mutation; Oncology; Cancer; Biology; Internal medicine; Cancer research; Mutation; Genetics; Microsatellite","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":[0.0002118658,0.001678059,0.001209229,0.001653098,0.001921112,0.0008396268,0.001193635,0.003282438,0.002928993],"category_scores_gemma":[0.002010146,0.0006399726,0.0007472254,0.00148724,0.001514438,0.00226903,0.001363998,0.00342128,0.0007991448],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001254291,"about_ca_system_score_gemma":0.001257996,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00676751,"about_ca_topic_score_gemma":0.01019285,"domain_scores_codex":[0.9994205,0.00003682965,0.00004435874,0.0002346678,0.0001317771,0.000131891],"domain_scores_gemma":[0.9990577,0.0002051235,0.0002246866,0.00003216598,0.00005229824,0.0004280257],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00001450546,0.00001974315,0.004006038,0.00002437344,0.000005985616,0.9932011,0.0001264007,0.00005235922,0.0007179775,0.0001938364,0.0004076438,0.00122998],"study_design_scores_gemma":[0.000004423848,0.00003832308,0.005180296,0.00002492877,0.000008872949,0.9937428,0.00007929943,0.00008447839,0.0001570253,0.0001332773,0.0005366514,0.000009608494],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9565164,0.0100074,0.006394975,0.007068568,0.001122733,0.0003199573,0.001636335,0.0004570693,0.01647663],"genre_scores_gemma":[0.9882932,0.002950125,0.002880868,0.001827488,0.0005287069,0.0000606046,0.0003226882,0.00007463906,0.003061649],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00676751,"threshold_uncertainty_score":0.01345623,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009470373978363112,"score_gpt":0.2246933675552014,"score_spread":0.2152229935768382,"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."}}