{"id":"W4362577044","doi":"10.1158/2767-9764.crc-22-0402","title":"Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome","year":2023,"lang":"en","type":"article","venue":"Cancer Research Communications","topic":"Cancer-related Molecular Pathways","field":"Medicine","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ontario Institute for Cancer Research; Mount Sinai Hospital; McMaster University; London Health Sciences Centre; Western University; Ontario Brain Institute; Vector Institute; Princess Margaret Cancer Centre; Hospital for Sick Children; University of Toronto","funders":"National Cancer Institute; Government of Canada; Robert Connor Dawes Foundation; Hospital for Sick Children; Terry Fox Research Institute; Garron Family Cancer Centre","keywords":"Penetrance; Li–Fraumeni syndrome; Germline; Cancer; Genetics; Biology; Epigenetics; Germline mutation; Breast cancer; Genetic testing; Bioinformatics; Oncology; Gene; Medicine; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008656022,0.0001796946,0.0003369761,0.000762934,0.000357254,0.00002503187,0.0007811453,0.0001038009,0.0001363659],"category_scores_gemma":[0.0004450903,0.0001672326,0.00004529868,0.002982078,0.0001481306,0.00008905503,0.0008243817,0.0008579089,0.0002989414],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002039175,"about_ca_system_score_gemma":0.001557336,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001657679,"about_ca_topic_score_gemma":0.008099598,"domain_scores_codex":[0.997162,0.0002366245,0.0004067095,0.0004045719,0.001017201,0.0007728809],"domain_scores_gemma":[0.9965162,0.0002497313,0.00006612128,0.001799103,0.0009771581,0.0003917023],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001868377,0.001818874,0.9206081,0.0003021021,0.0007613794,0.0001124905,0.004368626,0.002514188,0.004579645,0.000211101,0.01759798,0.04525715],"study_design_scores_gemma":[0.005524924,0.0002758443,0.8483279,0.00132593,0.00002601732,0.000003114324,0.0000966697,0.0005349082,0.001020415,0.00002319727,0.1425933,0.0002477229],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9844903,0.001377181,0.00008523151,0.01058752,0.00009961596,0.002699228,0.0002168121,0.0001331732,0.0003109572],"genre_scores_gemma":[0.9911841,0.00119086,0.001046892,0.0002608185,0.00002331228,0.004423179,0.0005010079,0.00006654736,0.001303256],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1249953,"threshold_uncertainty_score":0.6819549,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09316922365304761,"score_gpt":0.4119469256300037,"score_spread":0.3187777019769561,"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."}}