{"id":"W4401442229","doi":"10.1101/2024.08.08.24311713","title":"Adenomas from individuals with pathogenic biallelic variants in the <i>MUTYH</i> and <i>NTHL1</i> genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications","year":2024,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":0,"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 Cancer Institute","keywords":"MUTYH; Germline; Base excision repair; Colorectal cancer; Gene; DNA mismatch repair; Cancer research; Biology; Genetics; Medicine; Germline mutation; Cancer; Mutation; DNA repair","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":[0.0002359549,0.0002335508,0.0002003001,0.0006086311,0.0002784833,0.0003434301,0.0001395194,0.000219285,0.002371301],"category_scores_gemma":[0.0004659998,0.000125968,0.0001770587,0.0003177862,0.000225515,0.0001295482,0.0002925595,0.0001617619,0.0003438772],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001583974,"about_ca_system_score_gemma":0.000130455,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001270217,"about_ca_topic_score_gemma":0.002383915,"domain_scores_codex":[0.9996932,0.00003580214,0.00003483966,0.0001141421,0.00008026249,0.00004189264],"domain_scores_gemma":[0.9995885,0.00008699354,0.0001790708,0.00003660359,0.00004337558,0.00006535036],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008101019,0.00004481825,0.7388324,0.00008604625,0.0001284986,0.001271573,0.0003042706,0.00005763115,0.25,0.00008951635,0.0001188142,0.00825621],"study_design_scores_gemma":[0.000006932685,0.0001630367,0.9783151,0.000007140538,0.0000518872,0.005970347,0.0002097141,0.0001212093,0.01466439,0.00006259048,0.0004229665,0.000004590185],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986089,0.0001972405,0.0004187745,0.00001310332,0.000002814206,0.000007773446,0.0002620289,0.00001871707,0.0004706428],"genre_scores_gemma":[0.9991331,0.00005493022,0.000391053,0.000009775413,0.000002573162,0.000004563067,0.0002009944,0.000003803695,0.0001991957],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002371301,"threshold_uncertainty_score":0.007932842,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0175593248516861,"score_gpt":0.2667931178694698,"score_spread":0.2492337930177837,"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."}}