Combining genome-wide polygenic scores with registry data for colorectal cancer risk-based screening.

ABSTRACT:

Background

Polygenic risk scores (PRS) show potential for risk-based colorectal cancer (CRC) screening, but their utility must be assessed across diverse ancestries and tumour characteristics and compared with the current standard, the faecal immunochemical test (FIT).

Design

The cohort included 112,204 individuals from the Copenhagen Hospital Biobank (8995 with adenoma and 9246 with CRC), all with linked genetic and health registry data. A subset (N = 20,658) also had FIT results. CRC PRSs were evaluated for their association with lifetime adenoma and CRC risk and their predictive value individually and combined with FIT.

Results

PRS stratified population-calibrated lifetime adenoma and CRC risk independently of ancestry and sex. Individuals with a high PRS reached t

SUBMITTER: Nohr AK 

PROVIDER: S-EPMC13642245 | biostudies-literature | 2026 Jul

REPOSITORIES: biostudies-literature