{"id":"W2080593350","doi":"10.1158/1538-7445.cansusc14-35","title":"Abstract 35: Novel genetic and clinical determinants of Constitutional Mismatch Repair Deficiency syndrome: Report from the CMMRD consortium","year":2014,"lang":"en","type":"article","venue":"Cancer Research","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Mount Sinai Hospital; Hospital for Sick Children","funders":"","keywords":"PMS2; MSH6; Lynch syndrome; Microsatellite instability; Medicine; MLH1; Germline mutation; Germline; Cancer; Genetic testing; Asymptomatic; DNA mismatch repair; MSH2; Internal medicine; Oncology; Mutation; Allele; Colorectal cancer; Genetics; Gene; Biology; Microsatellite","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":[0.0008441648,0.0006219954,0.0003354894,0.001587089,0.0008294552,0.0007336242,0.0005600367,0.0009171683,0.003246513],"category_scores_gemma":[0.003049881,0.0002722003,0.0003060566,0.001029862,0.0005175997,0.000248496,0.0009858706,0.00068786,0.0004138085],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005103226,"about_ca_system_score_gemma":0.0006626788,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00637018,"about_ca_topic_score_gemma":0.002190676,"domain_scores_codex":[0.9988046,0.0002380522,0.0001347064,0.0003635556,0.0002579076,0.0002012323],"domain_scores_gemma":[0.9975864,0.0004902704,0.0005102161,0.0001852284,0.0003807664,0.0008471177],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002867664,0.0001460492,0.9397165,0.00005362171,0.0001103009,0.04282914,0.0006251219,0.0001520091,0.004140521,0.0003180945,0.004517892,0.007104017],"study_design_scores_gemma":[0.0001392167,0.0002969964,0.8364481,0.0000822768,0.0001348334,0.1520947,0.0006794786,0.0007579315,0.002321686,0.0002333377,0.006759433,0.00005208026],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9952044,0.000661935,0.0003813469,0.0005088144,0.00003266292,0.00003894474,0.001030359,0.00003283641,0.002108803],"genre_scores_gemma":[0.9979599,0.0001504965,0.0002737072,0.0001801541,0.00006110682,0.0000238903,0.0009785501,0.00001362114,0.0003585233],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00637018,"threshold_uncertainty_score":0.01266623,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1241797692969971,"score_gpt":0.4417877204325879,"score_spread":0.3176079511355908,"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."}}