{"id":"W4283706843","doi":"10.1136/jmedgenet-2021-108385","title":"Cancer risk and tumour spectrum in 172 patients with a germline <i>SUFU</i> pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group","year":2022,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"Fondation Gustave Roussy; Deutsche Kinderkrebsstiftung; Deutsche Krebshilfe; Associazione Italiana per la Ricerca sul Cancro; Bundesministerium für Bildung und Forschung; Institut Gustave-Roussy; National Institute for Health and Care Research","keywords":"Germline; Medicine; Cancer; Cohort; Internal medicine; Incidence (geometry); Meningioma; Oncology; Biology; Genetics; Pathology","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":[0.0008870313,0.0004119906,0.0005109279,0.001398482,0.0008250523,0.0004906237,0.0004645233,0.0004923337,0.001370603],"category_scores_gemma":[0.002182725,0.0004403415,0.0004353784,0.001613456,0.0003968026,0.0002923389,0.000554822,0.0003849992,0.0002959633],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006166956,"about_ca_system_score_gemma":0.0003924986,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01550638,"about_ca_topic_score_gemma":0.01152068,"domain_scores_codex":[0.9993899,0.0001602765,0.00006019081,0.0002031765,0.000111725,0.0000746775],"domain_scores_gemma":[0.9985986,0.0003722641,0.0004981211,0.0002009302,0.0001023162,0.000227871],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001570451,0.00002716875,0.998008,0.00001125955,0.00004627894,0.000271304,0.0002492935,0.00003487799,0.0002708965,0.00001212741,0.00008267441,0.0008291975],"study_design_scores_gemma":[0.0000260706,0.0001447169,0.9982786,0.00000738062,0.00003516197,0.0008779448,0.0002166429,0.00009987526,0.00006526342,0.00001778976,0.0002255692,0.000005118186],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992338,0.0001031589,0.00005836382,0.000009979284,0.000001343321,0.00001017922,0.0004172988,0.000002522275,0.0001634728],"genre_scores_gemma":[0.9986342,0.0001235079,0.0001260813,0.00001761044,0.000007842192,0.00001841272,0.0009640259,0.000003324785,0.0001049753],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01550638,"threshold_uncertainty_score":0.03083223,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006773595233845967,"score_gpt":0.2324325228010582,"score_spread":0.2256589275672122,"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."}}