Polygenic Score (PGS) ID: PGS000055

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal cancer (MONDO_0005575)
Released in PGS Catalog: Dec. 18, 2019
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Score Details

Score Construction
PGS Name PRS_CRC
Development Method
Name Known susceptibility variants (genome-wide significant SNPs)
Parameters Replicated p-values (discovery p-value < 5e-8, replication p-value < 0.05)
Variants
Original Genome Build hg19
Number of Variants 76
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000040
Citation (link to publication) Schmit SL et al. J Natl Cancer Inst (2019)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 91.1%
African: 8.9%
74,409 individuals (100%)
PGS Evaluation
East Asian: 66.7%
European: 33.3%
3 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST006131
Europe PMC: 29917119
 6,597 individuals African American or Afro-Caribbean NR
GWAS Catalog: GCST006131
Europe PMC: 29917119
 67,812 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
PPM000139 PSS000087|
European Ancestry|
61,335 individuals
 PGP000040 |
Schmit SL et al. J Natl Cancer Inst (2019)
 Reported Trait: Colorectal cancer — — Familial relative risk explained (%): 11.9 [9.2, 15.5]
PRS percentile threshold for Odds Ratio > 2: 95.7		 age, sex, PCs, PC*study —
PPM000140 PSS000086|
East Asian Ancestry|
21,630 individuals
 PGP000040 |
Schmit SL et al. J Natl Cancer Inst (2019)
 Reported Trait: Colorectal cancer — — PRS percentile threshold for Odds Ratio > 2: 99.1 age, sex, PCs, PC*study —
PPM018698 PSS011070|
East Asian Ancestry|
332 individuals
 PGP000494 |
Ho PJ et al. Elife (2023)
|Ext.		 Reported Trait: Colorectal cancer — AUROC: 0.65 [0.62, 0.69] Hazard ratio (HR, high vs low tertile): 2.27 [1.6, 3.21] age at recruitment —

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
PSS011070 — — 332 individuals,
0.0 % Male samples
 Median = 58.0 years
IQR = [52.0, 64.0] years		 East Asian
(Chinese)		 — SCHS —
PSS000086 — —
[
  • 8,580 cases
  • , 13,050 controls
]
 — East Asian — 8 cohorts
  • COLON
  • ,CORSA
  • ,DACHS
  • ,EPIC
  • ,HPFS
  • ,MGI
  • ,NHS
  • ,UKB
 —
PSS000087 — —
[
  • 12,952 cases
  • , 48,383 controls
]
 — European — 8 cohorts
  • COLON
  • ,CORSA
  • ,DACHS
  • ,EPIC
  • ,HPFS3
  • ,MGI
  • ,NHS3
  • ,UKB
 —