{"id":"W4367609480","doi":"10.1158/2767-9764.c.6547847","title":"Data from Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome","year":2023,"lang":"en","type":"preprint","venue":"","topic":"Cancer-related Molecular Pathways","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canadian Institute for Advanced Research; Ontario Institute for Cancer Research; Princess Margaret Cancer Centre; Mount Sinai Hospital; McMaster University; London Health Sciences Centre; Western University; University of Toronto; University Health Network; SickKids Foundation; Vector Institute; Hospital for Sick Children","funders":"Garron Family Cancer Centre; Hospital for Sick Children","keywords":"Li–Fraumeni syndrome; Penetrance; Germline; Cancer; Genetics; Biology; Cancer research; Epigenetics; DNA methylation; Germline mutation; Gene; Phenotype; 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":[0.0004387173,0.0003521701,0.000359213,0.001471371,0.0005193073,0.0006094986,0.0004252852,0.0004910937,0.001869558],"category_scores_gemma":[0.003128127,0.0002071182,0.0004105958,0.001347174,0.0003240081,0.0003203792,0.0005108134,0.0004478468,0.0002631254],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003321312,"about_ca_system_score_gemma":0.0002811827,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003490373,"about_ca_topic_score_gemma":0.004599023,"domain_scores_codex":[0.9993424,0.00008205373,0.00007170927,0.0002523772,0.000160905,0.00009048759],"domain_scores_gemma":[0.9983786,0.0005585687,0.0005376054,0.0001753688,0.000156256,0.000193612],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002000488,0.00001288979,0.983475,0.00002219106,0.00007603822,0.001335325,0.0001345667,0.0002566004,0.009159142,0.00009847013,0.0002035564,0.00502627],"study_design_scores_gemma":[0.00002700074,0.0001216135,0.9813549,0.00001629805,0.000142361,0.01007754,0.0002127911,0.00126609,0.004512805,0.0003410414,0.001908263,0.00001932774],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978442,0.0004097851,0.0003719644,0.00006854217,0.000005590907,0.000007289484,0.0008549379,0.00002241994,0.0004152787],"genre_scores_gemma":[0.9987341,0.0001271969,0.000308028,0.00003542026,0.000009757559,0.000007664538,0.000673295,0.00001242842,0.00009212041],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003490373,"threshold_uncertainty_score":0.006940067,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04970460850894622,"score_gpt":0.2992096301484467,"score_spread":0.2495050216395005,"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."}}