{"id":"W2995638827","doi":"10.1097/mph.0000000000001687","title":"Metachronous Wilms Tumor, Glioblastoma, and T-cell Leukemia in an Child With Constitutional Mismatch Repair Deficiency syndrome due to Novel Mutation in MSH6 (c.2590G>T)","year":2019,"lang":"en","type":"article","venue":"Journal of Pediatric Hematology/Oncology","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Pediatric Oncology Group","funders":"","keywords":"MSH6; PMS2; MSH2; MLH1; Medicine; Germline mutation; Lynch syndrome; Cancer research; Wilms' tumor; Mutation; Neurofibromatosis; Leukemia; Cancer; Acute leukemia; DNA mismatch repair; Internal medicine; Biology; Pathology; Genetics; Gene; Colorectal cancer","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":[0.0001943458,0.001153873,0.0005612216,0.001630716,0.001285387,0.0004575484,0.000508446,0.001397054,0.001552689],"category_scores_gemma":[0.001282141,0.0005548354,0.0004638846,0.0009144961,0.0009598314,0.000683504,0.0007601097,0.001638107,0.0002722662],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008830572,"about_ca_system_score_gemma":0.0009169202,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005833141,"about_ca_topic_score_gemma":0.01080258,"domain_scores_codex":[0.9996789,0.00003451747,0.00002977466,0.00008725192,0.00007091149,0.00009872672],"domain_scores_gemma":[0.9993231,0.0001284467,0.0001844744,0.00001822408,0.0000340896,0.0003116656],"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":[0.00006621828,0.00004601922,0.02778488,0.00003227818,0.0000143787,0.966736,0.0002239849,0.00009553764,0.002729261,0.0002137381,0.0003533516,0.001704337],"study_design_scores_gemma":[0.0000188855,0.0001258303,0.03593585,0.00001540451,0.00002981831,0.9617286,0.0001331929,0.0002611677,0.001110775,0.0001060404,0.0005232236,0.00001113987],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9936053,0.0008235209,0.0009883466,0.001069143,0.00009275029,0.00008611409,0.0002712284,0.00008584104,0.002977796],"genre_scores_gemma":[0.9975496,0.0004876811,0.0008712542,0.000240026,0.0001085904,0.00001579895,0.00009365963,0.00001702427,0.000616429],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005833141,"threshold_uncertainty_score":0.01159841,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008909853636032814,"score_gpt":0.2642432774243109,"score_spread":0.2553334237882781,"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."}}