Polygenic Score (PGS) ID: PGS004689

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal carcinoma (EFO_1001951)
Released in PGS Catalog: March 18, 2024
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Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name colorectal_cancer
Development Method
Name LDPred2
Parameters NR
Variants
Original Genome Build hg19
Number of Variants 1,077,789
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000596
Citation (link to publication) Hu J et al. JNCI Cancer Spectr (2024)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
309,154 individuals (100%)
Score Development/Training
European: 100%
365,812 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
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Study Identifiers
Sample Numbers
Sample Ancestry
Cohort(s)
—
[
  • 4,957 cases
  • , 304,197 controls
]
European
(Finnish)		FinnGen
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Score Development/Training
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Study Identifiers
Sample Numbers
Sample Ancestry
Cohort(s)
Phenotype Definitions & Methods
Age of Study Participants
Participant Follow-up Time
Additional Ancestry Description
Additional Sample/Cohort Information
—
[
  • 5,091 cases
  • , 360,721 controls
]
EuropeanUKB—————
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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.

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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
PPM020874PSS011433|
European Ancestry|
40,648 individuals
PGP000596 |
Hu J et al. JNCI Cancer Spectr (2024)
Reported Trait: Colorectal cancer—AUROC: 0.556———
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Evaluated Samples

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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
PSS011433——
[
  • 519 cases
  • , 40,129 controls
]
—European—UKB—
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