{"id":"W2919912164","doi":"10.1101/mcs.a003681","title":"Base excision repair deficiency signatures implicate germline and somatic <i>MUTYH</i> aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis","year":2019,"lang":"en","type":"article","venue":"Molecular Case Studies","topic":"Cancer Genomics and Diagnostics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":38,"is_retracted":false,"has_abstract":true,"ca_institutions":"Vancouver General Hospital; Canadian Centre for Applied Research in Cancer Control; Canada's Michael Smith Genome Sciences Centre; Pancreas Centre (Canada); University of British Columbia; BC Cancer Agency","funders":"Canadian Institutes of Health Research","keywords":"MUTYH; Carcinogenesis; Cancer research; Somatic cell; Breast cancer; Pancreatic ductal adenocarcinoma; Germline; Medicine; Base excision repair; Cancer; Biology; Pancreatic cancer; Germline mutation; Internal medicine; DNA repair; Gene; Genetics; Mutation","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001503934,0.0003625439,0.0002359983,0.0007181088,0.0005253627,0.0004943478,0.0002146101,0.0005150324,0.001407371],"category_scores_gemma":[0.000457489,0.0002550008,0.0002320866,0.000447646,0.0003651351,0.0001916404,0.0003348345,0.0003891614,0.0003548532],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002884131,"about_ca_system_score_gemma":0.0002009854,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001154366,"about_ca_topic_score_gemma":0.001456882,"domain_scores_codex":[0.9998164,0.00001270404,0.00002237172,0.00005165376,0.00004356047,0.00005342584],"domain_scores_gemma":[0.9995609,0.000109707,0.0001173462,0.00004601249,0.00003251653,0.0001334485],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006979033,0.0001020739,0.6333522,0.000103024,0.00005231061,0.1485521,0.0006862339,0.0002467211,0.1971437,0.000329796,0.0002560682,0.01847795],"study_design_scores_gemma":[0.00002283866,0.0002271869,0.348756,0.00001048302,0.00008175049,0.6037939,0.0003130755,0.0008551538,0.0436268,0.0001798865,0.002118058,0.00001489551],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982778,0.0003123262,0.0003851523,0.00004440497,0.000003020681,0.00000603201,0.00004672091,0.00002347598,0.0009010606],"genre_scores_gemma":[0.9992828,0.00007443054,0.0003733672,0.00001988557,0.000004672013,0.000002142817,0.00004384898,0.000003733781,0.0001952733],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001407371,"threshold_uncertainty_score":0.004708171,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008755594228724255,"score_gpt":0.2630324736395824,"score_spread":0.2542768794108581,"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."}}