{"id":"W2118404745","doi":"10.1136/jclinpath-2012-201376","title":"Colorectal cancer in a 9-year-old due to combined <i>EPCAM</i> and <i>MSH2</i> germline mutations: case report of a unique genotype and immunophenotype","year":2013,"lang":"en","type":"letter","venue":"Journal of Clinical Pathology","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Grand River Hospital; Western University; London Health Sciences Centre; University of Toronto","funders":"","keywords":"Lynch syndrome; Epithelial cell adhesion molecule; MLH1; MSH6; MSH2; PMS2; Germline mutation; Cancer research; Biology; Neurofibromatosis; Colorectal cancer; Cancer; Germline; Pathology; Medicine; Mutation; DNA mismatch repair; Genetics; Gene","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":["metaepi_narrow","research_integrity"],"consensus_categories":["research_integrity"],"category_scores_codex":[0.001925264,0.0003658551,0.002412214,0.0004159347,0.00003398427,0.00001669926,0.0001712893,0.001367171,0.000194892],"category_scores_gemma":[0.00354225,0.0003011326,0.0002539501,0.0002920863,0.0005568211,0.00006003552,0.0001761587,0.003246322,0.000004838269],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001124203,"about_ca_system_score_gemma":0.000922167,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003296447,"about_ca_topic_score_gemma":0.0002499364,"domain_scores_codex":[0.9948804,0.0005772422,0.003255607,0.0005111269,0.0003961596,0.0003794877],"domain_scores_gemma":[0.9947032,0.001678889,0.001996157,0.0003863142,0.0009682851,0.0002671467],"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":[0.005844858,0.0005674044,0.07899898,0.0008601817,0.00066941,0.7421622,0.0008293251,0.00003389078,0.007281621,0.0000155685,0.153758,0.008978638],"study_design_scores_gemma":[0.01399354,0.01910406,0.2637774,0.001695244,0.001591935,0.6582672,0.0001697225,0.00006309894,0.00101993,0.001896108,0.03747455,0.0009471612],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9097541,0.001794554,0.00003532563,0.08581109,0.001584555,0.0008123097,0.00006104278,0.000009074772,0.0001379829],"genre_scores_gemma":[0.8568523,0.001454597,0.008485495,0.1300822,0.002282212,0.00008413466,0.00003519128,0.0001153477,0.0006084798],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1847785,"threshold_uncertainty_score":0.9999441,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03296538921049742,"score_gpt":0.3639344910426368,"score_spread":0.3309691018321393,"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."}}