Polygenic Score (PGS) ID: PGS003386

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal carcinoma (EFO_1001951)
Released in PGS Catalog: Jan. 19, 2023
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Score Details

Score Construction
PGS Name best_COADREAD
Development Method
Name Pruning and Thresholding (P+T)
Parameters p < 1×10^-5, r2 < 0.1
Variants
Original Genome Build GRCh37
Number of Variants 61
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000413
Citation (link to publication) Namba S et al. Cancer Res (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 95.8%
East Asian: 4.2%
125,478 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST007856
Europe PMC: 30510241
 5,294 individuals East Asian NR
GWAS Catalog: GCST007856
Europe PMC: 30510241
 120,184 individuals European NR

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) 		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
PPM016261 PSS010076|
European Ancestry|
274,069 individuals
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Reported Trait: colorectal cancer — AUROC: 0.724 R²: 0.0115 age, sex, top 20 genetic principal components —

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
PSS010076 C18, C19, C20 —
[
  • 4,525 cases
  • , 269,544 controls
]
 — European
(British)		 — UKB Controls were samples without any cancer diagnosis or self-reported cancer