{"id":"W4384156829","doi":"10.1053/j.gastro.2023.06.032","title":"Elucidating the Risk of Colorectal Cancer for Variants in Hereditary Colorectal Cancer Genes","year":2023,"lang":"en","type":"article","venue":"Gastroenterology","topic":"Genetic factors in colorectal cancer","field":"Medicine","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; University of Toronto; Mount Sinai Hospital","funders":"Office of Research Infrastructure Programs, National Institutes of Health; National Center for Advancing Translational Sciences; National Institute of Environmental Health Sciences; National Institute on Aging; European Regional Development Fund; National Health and Medical Research Council; National Institute of Diabetes and Digestive and Kidney Diseases; World Cancer Research Fund; Medical Research Council; Canadian Institutes of Health Research; National Institutes of Health; Groupement des Entreprises Françaises dans la lutte contre le Cancer; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas; Xarxa de Bancs de Tumors de Catalunya; Wereld Kanker Onderzoek Fonds; Xunta de Galicia; Consejería de Educación, Junta de Castilla y León; Mutuelle Générale de l'Education Nationale; School of Public Health, Imperial College London; Deutsche Krebshilfe; Invitae; Associazione Italiana per la Ricerca sul Cancro; Centres de Recerca de Catalunya; Umeå Universitet; Vetenskapsrådet; Stockholms Läns Landsting; Karolinska Institutet; Bundesministerium für Bildung und Forschung; Ministerio de Economía y Competitividad; Imperial College London; Generalitat de Catalunya; Cancerfonden; National Cancer Institute; Fundación Científica Asociación Española Contra el Cáncer; Medizinische Universität Graz; Institut Gustave-Roussy; Herzfelder'sche Familienstiftung; Grantová Agentura České Republiky; National Human Genome Research Institute; Cancer Council Victoria; University of Melbourne; Institut National de la Santé et de la Recherche Médicale; Conseil Régional des Pays de la Loire; Génome Québec; Matthias Lackas-Stiftung; European Cooperation in Science and Technology; University of Cambridge; Agència de Gestió d'Ajuts Universitaris i de Recerca; National Institute for Health and Care Research; Wageningen University and Research; Cancer Research UK; Centers for Disease Control and Prevention; Myriad Genetics; Moffitt Cancer Center; Pelotonia; Australian Government; State of Maryland; Karl-Franzens-Universität Graz; Damon Runyon Cancer Research Foundation; Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute; University of South Florida; Swedish Cancer Foundation; National Heart, Lung, and Blood Institute; Florida Department of Health; Deutsche Forschungsgemeinschaft; Univerzita Karlova v Praze; McGill University; Canadian Cancer Society; Memorial Sloan-Kettering Cancer Center; Johns Hopkins University; Deutsches Krebsforschungszentrum; Ontario Ministry of Research, Innovation and Science; Association Anne de Bretagne Genetique; U.S. Department of Health and Human Services; Instituto de Salud Carlos III; Ohio State University; Ligue Contre le Cancer; Maryland Department of Health","keywords":"Colorectal cancer; Allele; Gene; Heterozygote advantage; Genetics; Cancer; Genetic testing; Biology; Medicine","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":[0.0004933929,0.0002207915,0.0005223664,0.0001828876,0.0000853793,0.000006039888,0.0002340285,0.0001489931,0.0002480308],"category_scores_gemma":[0.0002472193,0.0001655049,0.0001555888,0.0003649075,0.0002502725,0.00003620803,0.000142932,0.0003059327,0.000007244492],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001776945,"about_ca_system_score_gemma":0.000195145,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001534347,"about_ca_topic_score_gemma":0.00980937,"domain_scores_codex":[0.9980322,0.0001707164,0.0004814166,0.0004133319,0.0002280646,0.0006742986],"domain_scores_gemma":[0.9989878,0.0003369702,0.0002410548,0.000204667,0.0001433474,0.00008619599],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003430058,0.00007237051,0.936814,0.00008998485,0.0002706496,0.0000227351,0.000584001,0.002005388,0.04964779,0.000004421937,0.002818575,0.004239997],"study_design_scores_gemma":[0.002857345,0.001721016,0.9716424,0.00007855198,0.0001787096,0.00005163968,0.0003224102,0.005996389,0.01672488,0.0000953656,0.0002387375,0.00009251003],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.994525,0.0004679107,0.0001377069,0.001545611,0.001706739,0.001080775,0.0004224447,0.00005753741,0.00005624528],"genre_scores_gemma":[0.9966663,0.0005643219,0.000644785,0.0003368469,0.0003668733,0.001276864,0.0000432993,0.00004457845,0.00005612671],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03482841,"threshold_uncertainty_score":0.6749094,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01981496295949471,"score_gpt":0.2964211934275598,"score_spread":0.2766062304680652,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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