{"id":"W2172070112","doi":"10.1007/s00384-005-0764-z","title":"Double frameshift mutations in APC and MSH2 in the same individual","year":2005,"lang":"en","type":"article","venue":"International Journal of Colorectal Disease","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":19,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"Hôpitaux Universitaires de Genève; Swiss Cancer Research Foundation; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung","keywords":"Proband; Frameshift mutation; Familial adenomatous polyposis; MSH2; Medicine; MSH6; Germline mutation; Microsatellite instability; Mutation; Adenoma; Dysplasia; Pathology; Cancer research; Internal medicine; Gastroenterology; Genetics; Biology; DNA mismatch repair; Colorectal cancer; Cancer; Gene; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003488006,0.0001043674,0.0001653274,0.0003365585,0.00001991674,0.00005939101,0.0002743387,0.00005012957,0.0001882914],"category_scores_gemma":[0.0002942666,0.00007640564,0.00008232061,0.0001710469,0.0001037675,0.0001706039,0.00004704799,0.0003576519,0.000007908202],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001769478,"about_ca_system_score_gemma":0.0002966823,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002563965,"about_ca_topic_score_gemma":0.0001859029,"domain_scores_codex":[0.9985574,0.00005789122,0.0004141311,0.0001171402,0.0007111877,0.0001421889],"domain_scores_gemma":[0.9992622,0.0001895287,0.0001451838,0.00007254461,0.0001826833,0.0001478983],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0108023,0.001600073,0.9397223,0.00003493083,0.0002621374,0.001483594,0.009306472,0.002421636,0.001388815,0.001396219,0.001678868,0.02990266],"study_design_scores_gemma":[0.003955701,0.0002472617,0.9906256,0.0001166807,0.00005929394,0.0002504132,0.0004210047,0.0004159016,0.0003119289,0.001494416,0.00201618,0.00008565529],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9872929,0.0007013743,0.00002042796,0.01069953,0.0003364998,0.0002206484,0.00002390273,0.000004735276,0.000700021],"genre_scores_gemma":[0.9974759,0.00006921098,0.0006276306,0.001454213,0.0002956735,0.00001975608,0.00001236155,0.000009533045,0.00003574874],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05090327,"threshold_uncertainty_score":0.3115731,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01979829818868313,"score_gpt":0.319800238510165,"score_spread":0.3000019403214819,"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."}}