{"id":"W2066833606","doi":"10.1001/jama.296.12.1479","title":"Prediction of Germline Mutations and Cancer Risk in the Lynch Syndrome","year":2006,"lang":"en","type":"article","venue":"JAMA","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":386,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; McGill University","funders":"National Cancer Institute; Sidney Kimmel Comprehensive Cancer Center; Johns Hopkins University","keywords":"Lynch syndrome; Medicine; MSH6; Microsatellite instability; Germline mutation; Genetic counseling; Penetrance; Endometrial cancer; MLH1; MSH2; Concordance; Genetic testing; Colorectal cancer; Family history; Oncology; Confidence interval; Internal medicine; Mutation; Cancer; DNA mismatch repair; Genetics; Microsatellite; Biology; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001320869,0.0000467894,0.00009392987,0.00005075078,0.00002088685,0.000005177571,0.00003038501,0.00004800821,0.00007878516],"category_scores_gemma":[0.00006341435,0.0000320389,0.00001831307,0.0001567796,0.00005566098,0.00002299473,0.000008517214,0.0001111408,0.000001418849],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003756726,"about_ca_system_score_gemma":0.00003829001,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001850906,"about_ca_topic_score_gemma":0.0004719154,"domain_scores_codex":[0.9995229,0.00003038835,0.0001436308,0.00008934004,0.0001396226,0.00007408184],"domain_scores_gemma":[0.9997112,0.00007545821,0.00004915029,0.0001055946,0.00004426592,0.00001438355],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00008386646,0.0001296656,0.9711629,0.0000837228,0.00002516766,0.00002079176,0.000919681,0.0005212603,0.005145344,0.00007576652,0.003852913,0.01797899],"study_design_scores_gemma":[0.0009177967,0.0001413068,0.995293,0.00004172961,0.00004973797,0.00005727311,0.00008672517,0.0007606134,0.001010327,0.000406163,0.001210236,0.00002515017],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964793,0.0007939305,0.00003614603,0.001113113,0.0000939239,0.0002216516,0.00006993259,0.00000934044,0.001182692],"genre_scores_gemma":[0.9992216,0.0001262922,0.0002297319,0.0001109049,0.00009396367,0.00004892874,0.0000142893,0.000005602728,0.0001487071],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02413011,"threshold_uncertainty_score":0.2798029,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0155037157365636,"score_gpt":0.2653307363136529,"score_spread":0.2498270205770893,"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."}}