{"id":"W2017119703","doi":"10.1007/s10350-004-6397-4","title":"Impact of Gender and Parent of Origin on the Phenotypic Expression of Hereditary Nonpolyposis Colorectal Cancer in a Large Newfoundland Kindred With a Common MSH2 Mutation","year":2002,"lang":"en","type":"article","venue":"Diseases of the Colon & Rectum","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":57,"is_retracted":false,"has_abstract":true,"ca_institutions":"Memorial University of Newfoundland","funders":"","keywords":"Medicine; Colorectal cancer; Cancer; Mutation; MSH2; Internal medicine; MLH1; Oncology; DNA mismatch repair; Genetics; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006674318,0.0002821589,0.0002339948,0.0005203112,0.0004090949,0.0003253102,0.0002057191,0.0001905728,0.001043546],"category_scores_gemma":[0.002918443,0.0001405221,0.0002192231,0.0002737987,0.0004720116,0.0001415834,0.0003057862,0.0001527609,0.00009773879],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006402032,"about_ca_system_score_gemma":0.0004063019,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0379465,"about_ca_topic_score_gemma":0.07658357,"domain_scores_codex":[0.99941,0.0002876792,0.0000233258,0.0001023852,0.00008750991,0.0000889504],"domain_scores_gemma":[0.9981907,0.0006470165,0.0006899038,0.000138958,0.0001418789,0.000191617],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000081566,0.000007525,0.9973007,0.000002822185,0.00001896321,0.0004914927,0.0001112303,0.00002476495,0.0004928439,0.00001134745,0.00006042533,0.001396385],"study_design_scores_gemma":[0.000002391252,0.00003951295,0.9982464,0.000004266959,0.00001996378,0.001280678,0.0001242713,0.00007502447,0.0001034741,0.00000888607,0.00009367037,0.000001605019],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994808,0.0001385778,0.00006253486,0.00003772239,0.000002215512,0.000001438885,0.00006483519,0.000002285504,0.0002095652],"genre_scores_gemma":[0.9996885,0.00004382213,0.0000696237,0.00001713406,0.000002058562,0.000001668611,0.00006497537,0.000001800841,0.0001105158],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9620535,"threshold_uncertainty_score":0.07545125,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02422942743870965,"score_gpt":0.2926694207796448,"score_spread":0.2684399933409351,"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."}}