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)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
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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
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS001776
(PRS45_CC)
 PGP000256 |
Gafni A et al. PLoS One (2021)
 Colorectal cancer colorectal cancer 45
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001776/ScoringFiles/PGS001776.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
PPM009239 PGS001776
(PRS45_CC)
 PSS007664|
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
(PRS45_CC)
 PSS007664|
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
(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
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 —