Polygenic Score (PGS) ID: PGS003851

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal cancer (MONDO_0005575)
Released in PGS Catalog: Sept. 1, 2023
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Score Details

Score Construction
PGS Name CRC_PRS_EUR
Development Method
Name LDpred
Parameters LD:European
Variants
Original Genome Build GRCh37
Number of Variants 1,180,765
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000294
Citation (link to publication) Thomas M et al. Am J Hum Genet (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
93,105 individuals (100%)
PGS Evaluation
African: 25%
Hispanic or Latin American: 25%
European: 25%
Additional Asian Ancestries: 12.5%
East Asian: 12.5%
8 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST012876
Europe PMC: 30510241
 26,554 individuals European NR
GWAS Catalog: GCST012877
Europe PMC: 30510241
 23,691 individuals European NR
GWAS Catalog: GCST012878
Europe PMC: 30510241
 2,234 individuals European NR
GWAS Catalog: GCST012879
Europe PMC: 30510241
 32,072 individuals European NR
GWAS Catalog: GCST012880
Europe PMC: 30510241
 8,554 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
PPM018681 PSS011062|
Additional Asian Ancestries|
12,025 individuals
 PGP000492 |
Thomas M et al. Nat Commun (2023)
|Ext.		 Reported Trait: Colorectal cancer — AUROC: 0.619 [0.547, 0.689] — Age, sex, PCs 1-10 —
PPM018682 PSS011063|
African Ancestry|
13,823 individuals
 PGP000492 |
Thomas M et al. Nat Commun (2023)
|Ext.		 Reported Trait: Colorectal cancer — AUROC: 0.526 [0.419, 0.62] — Age, sex, PCs 1-10 —
PPM018683 PSS011064|
Hispanic or Latin American Ancestry|
10,377 individuals
 PGP000492 |
Thomas M et al. Nat Commun (2023)
|Ext.		 Reported Trait: Colorectal cancer — AUROC: 0.584 [0.511, 0.656] — Age, sex, PCs 1-10 —
PPM018684 PSS011065|
European Ancestry|
118,756 individuals
 PGP000492 |
Thomas M et al. Nat Commun (2023)
|Ext.		 Reported Trait: Colorectal cancer — AUROC: 0.638 [0.624, 0.652] — Age, sex, PCs 1-10 —
PPM018669 PSS011059|
European Ancestry|
72,791 individuals
 PGP000294 |
Thomas M et al. Am J Hum Genet (2020)
 Reported Trait: Colorectal cancer — AUROC: 0.654 [0.639, 0.669] — age, sex —
PPM018670 PSS011058|
East Asian Ancestry|
6,966 individuals
 PGP000294 |
Thomas M et al. Am J Hum Genet (2020)
 Reported Trait: Colorectal cancer — AUROC: 0.601 [0.538, 0.664] — age, sex —
PPM018671 PSS011057|
African Ancestry|
5,249 individuals
 PGP000294 |
Thomas M et al. Am J Hum Genet (2020)
 Reported Trait: Colorectal cancer — AUROC: 0.543 [0.5, 0.6241] — age, sex —
PPM018672 PSS011060|
Hispanic or Latin American Ancestry|
6,660 individuals
 PGP000294 |
Thomas M et al. Am J Hum Genet (2020)
 Reported Trait: Colorectal cancer — AUROC: 0.602 [0.542, 0.662] — age, sex —

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
PSS011062 — —
[
  • 2,420 cases
  • , 9,605 controls
]
,
50.5 % Male samples
 Mean = 64.5 years Asian unspecified — GERA, MG-JPN —
PSS011063 — —
[
  • 1,954 cases
  • , 11,869 controls
]
,
44.0 % Male samples
 Mean = 61.33 years African American or Afro-Caribbean — GERA, MG-AA, eMERGE —
PSS011064 — —
[
  • 1,681 cases
  • , 8,696 controls
]
,
47.5 % Male samples
 Mean = 64.0 years Hispanic or Latin American — GERA, HCCS —
PSS011065 — —
[
  • 3,651 cases
  • , 115,105 controls
]
,
52.75 % Male samples
 Mean = 65.75 years European — BCC, CPSII, GERA, eMERGE —
PSS011057 — —
[
  • 56 cases
  • , 5,193 controls
]
,
65.5 % Male samples
 Mean = 61.6 years
Range = [20.0, 90.0] years		 African American or Afro-Caribbean
(African American)		 — GERA —
PSS011058 — —
[
  • 96 cases
  • , 6,870 controls
]
,
42.1 % Male samples
 Mean = 55.8 years
Range = [20.0, 90.0] years		 East Asian — GERA —
PSS011059 — —
[
  • 1,311 cases
  • , 71,480 controls
]
,
41.6 % Male samples
 Mean = 62.3 years
Range = [20.0, 90.0] years		 European — GERA —
PSS011060 — —
[
  • 70 cases
  • , 6,590 controls
]
,
38.7 % Male samples
 Mean = 55.0 years
Range = [20.0, 90.0] years		 Hispanic or Latin American — GERA —