{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009154589,0.0004389202,0.0006139278,0.004208532,0.0005325667,0.001090785,0.000606431,0.0007898551,0.008125035],"category_scores_gemma":[0.008759525,0.0002420221,0.001033871,0.004767531,0.0002765167,0.0006209834,0.0006676688,0.0007630617,0.002109898],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000363164,"about_ca_system_score_gemma":0.0009438571,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01178622,"about_ca_topic_score_gemma":0.01807914,"domain_scores_codex":[0.9992697,0.0001566343,0.0001062435,0.0001245258,0.0002674224,0.00007548847],"domain_scores_gemma":[0.9973182,0.001231698,0.0006866711,0.0001367255,0.0004444484,0.0001822632],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006071697,0.0001038157,0.8393383,0.001611963,0.0008422661,0.003055524,0.0004901946,0.0003409713,0.002967168,0.001268288,0.01812243,0.1312519],"study_design_scores_gemma":[0.0000712287,0.0002687997,0.9410318,0.001779113,0.001704559,0.009780246,0.0008009294,0.0007695077,0.002069426,0.00349048,0.0381674,0.00006654738],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.824867,0.08886553,0.005937101,0.01339708,0.0005500042,0.0003215967,0.03011963,0.0003607777,0.03558149],"genre_scores_gemma":[0.9219147,0.0432119,0.01215418,0.001621614,0.0003585091,0.0001376532,0.0134485,0.0001193572,0.007033543],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01178622,"threshold_uncertainty_score":0.02718097,"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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