ArticleCancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology2022
Evaluating the Potential of Polygenic Risk Score to Improve Colorectal Cancer Screening.
Article in Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed, 11 citations in OpenAlex.
- Combining genome-wide polygenic scores with registry data for colorectal cancer risk-based screening.British journal of cancer · 2026Article
- Provider perceptions and insights on polygenic risk scores for colorectal cancer: A qualitative study.Journal of genetic counseling · 2025Article
- Advances in colorectal cancer screening and detection: a narrative review on biomarkers, imaging and preventive strategies.Journal of the Egyptian National Cancer Institute · 2025Review
- Diagnostic Performance of Faecal Immunochemical Testing (FIT) in Patients with Lynch Syndrome Scheduled for Colonoscopic Surveillance.Diagnostics (Basel, Switzerland) · 2024Article
- Benefits and harms of polygenic risk scores in organised cancer screening programmes: a cost-effectiveness analysis.The Lancet regional health. Western Pacific · 2024Article
- Navigating the uncertainty of precision cancer screening: The role of shared decision-making.PEC innovation · 2023Article
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Authors and funding
26 authors at 5 institutions in 1 country.
Funding
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Abstract
backgroundColorectal cancer has high incidence and associated 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.
methodsWe 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 genotyped. Polygenic risk score (PRS) and additive models for risk prediction incorporating sex, age, FIT value, and PRS were generated.
resultsRisk 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].
conclusionsThis 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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