Polygenic Score (PGS) ID: PGS003439

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal cancer (MONDO_0005575)
Released in PGS Catalog: March 3, 2023
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Score Details

Score Construction
PGS Name PRSCC_140
Development Method
Name Genome-wide significant variants
Parameters p<1e-05
Variants
Original Genome Build NR
Number of Variants 140
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000441
Citation (link to publication) Su YR et al. Cancer Epidemiol Biomarkers Prev (2023)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 63.9%
East Asian: 36.1%
195,545 individuals (100%)
Score Development/Training
European: 100%
20,040 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: GCST012879
Europe PMC: 30510241
 32,072 individuals European NR
GWAS Catalog: GCST007992
Europe PMC: 31089142
 92,967 individuals European NR
GWAS Catalog: GCST007552
Europe PMC: 30529582
 70,506 individuals East Asian NR
Score Development/Training
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
— 20,040 individuals,
45.2 % Male samples
 European CORECT, GECCO — Median = 66.0 years — — —

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
PPM017158 PSS010138|
European Ancestry|
66,282 individuals
 PGP000441 |
Su YR et al. Cancer Epidemiol Biomarkers Prev (2023)
 Reported Trait: 5 year colorectal cancer risk — AUROC: 0.73 [0.71, 0.76] — age, first-degree CRC family history, sex, endoscopy history —
PPM017159 PSS010138|
European Ancestry|
66,282 individuals
 PGP000441 |
Su YR et al. Cancer Epidemiol Biomarkers Prev (2023)
 Reported Trait: 10 year colorectal cancer risk — AUROC: 0.72 [0.7, 0.74] — age, first-degree CRC family history, sex, endoscopy 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
PSS010138 — — 66,282 individuals,
42.3 % Male samples
 Median = 63.0 years European — GERA —