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2022-05-05

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cc by-nc-nd (c) Arnau Collell, Coral et al., 2022
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/188902

Evaluating the Potential of Polygenic Risk Score to Improve Colorectal Cancer Screening

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https://doi.org/10.1158/1055-9965.EPI-22-0042

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Background: Colorectal cancer has high incidence and associ-ated mortality worldwide. Screening programs are recommended for men and women over 50. Intermediate screens such as fecal immunochemical testing (FIT) select patients for colonoscopy with suboptimal sensitivity. Additional biomarkers could improve the current scenario. Methods: We included 2,893 individuals with a positive FIT test. They were classified as cases when a high-risk lesion for colorectal cancer was detected after colonoscopy, whereas the control group comprised individuals with low-risk or no lesions. 65 colorectal cancer risk genetic variants were geno-typed. Polygenic risk score (PRS) and additive models for risk prediction incorporating sex, age, FIT value, and PRS were generated. Results: Risk score was higher in cases compared with controls [per allele OR = 1.04; 95% confidence interval (CI), 1.02-1.06; P < 0.0001]. A 2-fold increase in colorectal cancer risk was observed for subjects in the highest decile of risk alleles (>= 65), compared with those in the first decile (<= 54; OR = 2.22; 95% CI, 1.59-3.12; P < 0.0001). The model combining sex, age, FIT value, and PRS reached the highest accuracy for identifying patients with a high-risk lesion [cross-validated area under the ROC curve (AUROC): 0.64; 95% CI, 0.62-0.66]. Conclusions: This is the first investigation analyzing PRS in a two-step colorectal cancer screening program. PRS could improve current colorectal cancer screening, most likely for higher at-risk subgroups. However, its capacity is limited to predict colorectal cancer risk status and should be complemented by additional biomarkers.Impact: PRS has capacity for risk stratification of colorectal cancer suggesting its potential for optimizing screening strategies alongside with other biomarkers.

Matèries

Càncer colorectal, Cribratge, Factors de risc en les malalties

Matèries (anglès)

Colorectal cancer, Medical screening, Risk factors in diseases

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Articles publicats en revistes (Ciències Clíniques)
Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

Citació

ARNAU COLLELL, Coral, DÍEZ VILLANUEVA, Anna, BELLOSILLO PARICIO, Beatriz, AUGÉ FRADERA, Josep maria, MUÑOZ, Jenifer, GUINÓ, Elisabet, MOREIRA RUIZ, Leticia, SERRADESANFERM, Anna, POZO, Àngels, TORÀ ROCAMORA, Isabel, BONJOCH, Laia, IBAÑEZ SANZ, Gemma, OBÓN SANTACANA, Mireia, MORATALLA NAVARRO, Ferran, SANZ PAMPLONA, Rebeca, MÁRQUEZ MÁRQUEZ, Carmen, RUEDA MIRET, Rebeca, PÉREZ BERBEGAL, Rocío, PIQUER VELASCO, Gabriel, HERNÁNDEZ RODRÍGUEZ, Cristina, GRAU, Jaume, CASTELLS GARANGOU, Antoni, BORRÀS, Josep maria, BESSA I CASERRAS, Xavier, MORENO AGUADO, Víctor, CASTELLVÍ BEL, Sergi, CRIPREV consortium. Evaluating the Potential of Polygenic Risk Score to Improve Colorectal Cancer Screening. _Cancer Epidemiology_. Biomarkers & Prevention. Vol.  2022, núm. 31, pàgs. 7. [consulta: 25 de febrer de 2026]. ISSN: 1538-7755. [Disponible a: https://hdl.handle.net/2445/188902]

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