{"id":"W4406199885","doi":"10.1016/j.tranon.2024.102266","title":"Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications","year":2025,"lang":"en","type":"article","venue":"Translational Oncology","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Princess Margaret Cancer Centre; University Health Network; Lunenfeld-Tanenbaum Research Institute; University of Toronto; Mount Sinai Hospital","funders":"National Health and Medical Research Council; National Institutes of Health; National Cancer Institute; Medical Research Council; State Government of Victoria","keywords":"MUTYH; Gene; Colorectal cancer; Genetics; DNA mismatch repair; Biology; Cancer research; Base excision repair; Medicine; Mutation; Cancer; DNA repair; Germline mutation","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":[0.0004664004,0.0001938733,0.000293647,0.0002572234,0.0002360148,0.00003513457,0.0001122747,0.0002185408,0.00006234506],"category_scores_gemma":[0.0001705967,0.0001545382,0.00004307095,0.0004386735,0.0001961273,0.00007659422,0.00002357504,0.0002872788,0.000001890897],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002174403,"about_ca_system_score_gemma":0.001476316,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001157788,"about_ca_topic_score_gemma":0.001021489,"domain_scores_codex":[0.9982222,0.0002928398,0.0003878189,0.0005187044,0.0003490228,0.0002293667],"domain_scores_gemma":[0.9977857,0.001718243,0.0001044788,0.0001457586,0.0001353866,0.000110391],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.005210307,0.00115129,0.5578321,0.0002908076,0.0008391221,0.0006704438,0.0114536,0.007403295,0.3269379,0.009540361,0.001041296,0.07762939],"study_design_scores_gemma":[0.002366791,0.0004706118,0.9889228,0.0001187256,0.0003056374,0.00009979775,0.0008252699,0.002345124,0.0005381112,0.002891854,0.0009374851,0.0001777947],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9732665,0.002270882,0.01147129,0.009857625,0.0001098581,0.002409699,0.0003123269,0.00004088285,0.0002609766],"genre_scores_gemma":[0.9751813,0.0001793994,0.0224158,0.0007028368,0.0001612724,0.0009964462,0.0003330629,0.00001590106,0.0000139825],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4310907,"threshold_uncertainty_score":0.6301886,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01788798101521593,"score_gpt":0.2966187553242095,"score_spread":0.2787307743089936,"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."}}