{"id":"W4415701273","doi":"10.1038/s41598-025-21956-w","title":"Multiple polygenic score approach in colorectal cancer risk prediction","year":2025,"lang":"en","type":"article","venue":"Scientific Reports","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Princess Margaret Cancer Centre; Memorial University of Newfoundland; University Health Network","funders":"Office of Research Infrastructure Programs, National Institutes of Health; National Human Genome Research Institute; Ontario Ministry of Research and Innovation; NIHR Imperial Biomedical Research Centre; Medical Research Council; Canadian Institutes of Health Research; Centers for Disease Control and Prevention; National Institutes of Health; Xunta de Galicia; Medizinische Universität Graz; Herzfelder'sche Familienstiftung; Grantová Agentura České Republiky; Institut Gustave-Roussy; School of Public Health, Imperial College London; Deutsche Krebshilfe; Vetenskapsrådet; World Cancer Research Fund; Knut och Alice Wallenbergs Stiftelse; Mutuelle Générale de l'Education Nationale; Bundesministerium für Bildung und Forschung; Ministerio de Economía y Competitividad; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Cancerfonden; National Cancer Institute; Fundación Científica Asociación Española Contra el Cáncer; ZonMw; Canadian Cancer Society Research Institute; Institut National de la Santé et de la Recherche Médicale; Centres de Recerca de Catalunya; Umeå Universitet; Ministerstvo Zdravotnictví Ceské Republiky; Groupement des Entreprises Françaises dans la lutte contre le Cancer; Centre Hospitalier Universitaire de Nantes; European Commission; Imperial College London; Generalitat de Catalunya; Food Standards Agency; Conseil Régional des Pays de la Loire; Génome Québec; Wayne and Gladys Valley Foundation; Johns Hopkins University; Centre International de Recherche sur le Cancer; Karl-Franzens-Universität Graz; McGill University; Agència de Gestió d'Ajuts Universitaris i de Recerca; National Institute for Health and Care Research; Division of Cancer Prevention, National Cancer Institute; Harvard T.H. Chan School of Public Health; University of Pittsburgh; Pelotonia; Wereld Kanker Onderzoek Fonds; Brigham and Women's Hospital; Emory University; Associazione Italiana per la Ricerca sul Cancro; Kaiser Permanente; Ligue Contre le Cancer; Deutsches Krebsforschungszentrum; Biobanco Vasco; Fred Hutchinson Cancer Research Center; Wageningen University and Research; Cancer Research UK; World Health Organization; World Cancer Research Fund International; Robert Wood Johnson Foundation; Association Anne de Bretagne Genetique; Instituto de Salud Carlos III; Ellison Medical Foundation; American Cancer Society; U.S. Department of Health and Human Services","keywords":"Polygenic risk score; Receiver operating characteristic; Colorectal cancer; Predictive modelling; Framingham Risk Score; Cohort; Risk assessment; Set (abstract data type); Data set","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":[0.009882836,0.001234325,0.001677679,0.003020362,0.0005381795,0.001230202,0.001137791,0.0009196659,0.001530327],"category_scores_gemma":[0.01351879,0.0004585967,0.002145841,0.00273991,0.0006834076,0.0008334678,0.001178869,0.001891585,0.0003510597],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000697322,"about_ca_system_score_gemma":0.0009347301,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01138365,"about_ca_topic_score_gemma":0.008048721,"domain_scores_codex":[0.993393,0.004911544,0.0002012514,0.0009519079,0.000359962,0.0001823371],"domain_scores_gemma":[0.9919949,0.006305992,0.0005038303,0.0006195968,0.0003730179,0.0002027413],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.0008866797,0.0002596851,0.4701809,0.0002172502,0.004025326,0.0006437967,0.0002119096,0.3498474,0.001417836,0.005259788,0.002769496,0.1642799],"study_design_scores_gemma":[0.00006371125,0.0003083253,0.07301604,0.00005835666,0.0005090369,0.0003643611,0.0000476583,0.9060586,0.0004195723,0.01765229,0.001437559,0.00006444714],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.5695205,0.006040776,0.4151937,0.002887559,0.0002325111,0.0002310251,0.002961898,0.0009134992,0.00201857],"genre_scores_gemma":[0.9529611,0.0006946946,0.04369452,0.0002652345,0.0001412595,0.0001003725,0.001200096,0.0000410841,0.0009016402],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01138365,"threshold_uncertainty_score":0.05226606,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009977154638978017,"score_gpt":0.255260906358948,"score_spread":0.24528375171997,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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