PGS Publication: PGP000256

Publication Information (EuropePMC)
Title Ability of known colorectal cancer susceptibility SNPs to predict colorectal cancer risk: A cohort study within the UK Biobank.
PubMed ID 34525106(Europe PMC)
doi 10.1371/journal.pone.0251469
Publication Date Sept. 15, 2021
Journal PLoS One
Author(s) Gafni A, Dite GS, Spaeth Tuff E, Allman R, Hopper JL.
Released in PGS Catalog: Nov. 25, 2021

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
East Asian
South Asian
Additional Asian Ancestries
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGP000256 |
Gafni A et al. PLoS One (2021)
Colorectal cancer colorectal cancer 45

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
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM009239 PGS001776
European Ancestry|
403,998 individuals
PGP000256 |
Gafni A et al. PLoS One (2021)
Reported Trait: Full lifetime risk of colorectal cancer β: 1.848 AUROC: 0.673 [0.664, 0.682] Family history
PPM009240 PGS001776
European Ancestry|
403,998 individuals
PGP000256 |
Gafni A et al. PLoS One (2021)
Reported Trait: 10-year risk of colorectal cancer β: 1.088 AUROC: 0.674 [0.665, 0.683] Family history

Evaluated Samples

PGS Sample Set ID
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
PSS007664 Cases were individuals with (incident) invasive colorectal cancer diagnosed after a baseline assessment. Colorectal cancer was identified using linkedc cancer registry data using ICD-9 (1530–1539, 1540–1541), ICD-10 (C18–C20) codes or self-reported disease).
  • 2,992 cases
  • , 401,006 controls
45.85 % Male samples
European UKB