PGS Publication: PGP000783

Publication Information (EuropePMC)
Title Optimizing colorectal cancer screening through polygenic risk score-based risk stratification: evidence from a population-based cohort and screening trial.
PubMed ID 41851747(Europe PMC)
doi 10.1186/s13073-026-01623-z
Publication Date March 19, 2026
Journal Genome Med
Author(s) Chen H, Si J, Luo C, Tian J, Xin J, Yu C, Sun D, Pei P, Yang L, Millwood IY, Walters RG, Chen Y, Du H, Chen Z, Li L, Koido M, Kamatani Y, Wang M, Miao X, Lv J, Dai M.
Released in PGS Catalog: April 13, 2026

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
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PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS005402
(PRS121)
 PGP000783 |
Chen H et al. Genome Med (2026)
 Colorectal cancer colorectal cancer 121
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005402/ScoringFiles/PGS005402.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM) 		Evaluated Score PGS Sample Set ID
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM023446 PGS005402
(PRS121)
 PSS012191|
East Asian Ancestry|
2,821 individuals
 PGP000783 |
Chen H et al. Genome Med (2026)
 Reported Trait: Advanced colorectal neoplasia OR: 3.66 AUROC: 0.629 — age; sex; top 10 genetic principal components; family history of colorectal cancer OR corresponds to top 20% vs lowest quintile of PRS distribution; AUROC for AN vs HC comparison.
PPM023445 PGS005402
(PRS121)
 PSS012190|
East Asian Ancestry|
100,219 individuals
 PGP000783 |
Chen H et al. Genome Med (2026)
 Reported Trait: Incident colorectal cancer HR: 1.42 C-index: 0.602 — sex; top 10 genetic principal components; healthy lifestyle index Effect size reported per SD increase in PRS; Fine-Gray competing risk model.

Evaluated Samples

PGS Sample Set ID
(PSS) 		Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS012191 Advanced colorectal neoplasia (CRC or advanced adenoma) vs controls in a population-based screening trial. —
[
  • 415 cases
  • , 2,406 controls
]
 — East Asian
(Chinese)		 — TARGETC Participants underwent colonoscopy during baseline screening phase (subset with PRS available).
PSS012190 Incident colorectal cancer cases identified by ICD-10 codes C18-C20 in a prospective cohort. Median = 14.0 years
[
  • 810 cases
  • , 99,409 controls
]
 — East Asian
(Chinese)		 — CKB Genotyped CKB participants passing QC; participants with cancer at baseline excluded.