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Title: Evaluating the Potential of Polygenic Risk Score to Improve Colorectal Cancer Screening
Author: Arnau Collell, Coral
Díez Villanueva, Anna
Bellosillo Paricio, Beatriz
Augé Fradera, Josep Maria
Muñoz, Jenifer
Guinó, Elisabet
Moreira, Leticia
Serradesanferm, Anna
Pozo, Àngels
Torà Rocamora, Isabel
Bonjoch, Laia
Ibañez Sanz, Gemma
Obon 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
Keywords: Càncer colorectal
Factors de risc en les malalties
Colorectal cancer
Medical screening
Risk factors in diseases
Issue Date: 5-May-2022
Publisher: American Association for Cancer Research (AACR)
Abstract: 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.
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It is part of: Cancer Epidemiology, Biomarkers & Prevention, 2022, vol. 31, num. 7, p. 1305-1312
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ISSN: 1538-7755
Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)
Articles publicats en revistes (Ciències Clíniques)

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