{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00077499,0.0003854059,0.0003858114,0.001111837,0.0003700107,0.0005646852,0.0002858088,0.0004087825,0.0007175102],"category_scores_gemma":[0.004340964,0.0002394995,0.0004795792,0.0009486502,0.0003462435,0.00031921,0.000480243,0.0005489386,0.0001226455],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003776287,"about_ca_system_score_gemma":0.000298835,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004126913,"about_ca_topic_score_gemma":0.004557833,"domain_scores_codex":[0.9995536,0.00009641403,0.00005391003,0.0001462859,0.00008957221,0.0000601411],"domain_scores_gemma":[0.9980271,0.0007274374,0.0008238294,0.0001377452,0.0001291299,0.0001548277],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00008576348,0.000009016149,0.9960312,0.000003665526,0.00003550818,0.0002790501,0.00002970681,0.0004875738,0.000831008,0.00001716756,0.000040383,0.002149944],"study_design_scores_gemma":[0.00001537872,0.0001106824,0.9860511,0.00000709914,0.00009985795,0.003459681,0.0001193124,0.008367334,0.001270961,0.0002398846,0.0002451416,0.00001360439],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992808,0.0001747428,0.0003110935,0.0000351288,0.000002014162,0.000003035365,0.0000747175,0.0000183513,0.000100157],"genre_scores_gemma":[0.99962,0.0000460401,0.0002058871,0.000007213348,0.000003108921,0.000001790439,0.00008701909,0.000002411443,0.00002655292],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004126913,"threshold_uncertainty_score":0.008205771,"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."}}