Polygenic Score (PGS) ID: PGS000720

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal cancer (MONDO_0005575)
Released in PGS Catalog: Feb. 3, 2021
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Score Details

Score Construction
PGS Name PRS_Colorectal
Development Method
Name Genome-wide significant variants
Parameters NR
Variants
Original Genome Build hg19
Number of Variants 95
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000135
Citation (link to publication) Jia G et al. JNCI Cancer Spectr (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 91.1%
African: 8.9%
74,409 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: 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
PPM001648 PSS000855|
European Ancestry|
400,812 individuals
 PGP000135 |
Jia G et al. JNCI Cancer Spectr (2020)
 Reported Trait: Incident colorectal cancer — AUROC: 0.609 [0.598, 0.62] — Genotyping array —
PPM001649 PSS000855|
European Ancestry|
400,812 individuals
 PGP000135 |
Jia G et al. JNCI Cancer Spectr (2020)
 Reported Trait: Incident colorectal cancer — AUROC: 0.613 [0.602, 0.624] — family history of cancer (in first-degree relatives), genotyping array —

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
PSS000855 Data and diagnoses on site-specific incident cancers were provided by the National Health Service Information Centre for participants from England and Wales (follow-up through March 31, 2016) and by the NHS Central Register Scotland for participants from Scotland (follow-up through October 31, 2015). Cancers were coded by the International Classification of Diseases, Ninth Revision (ICD-9) or the International Classification of Diseases, Tenth Revision (ICD-10). Colorectal Cancer=(ICD-9 = 153, 154.1 or ICD-10 = C18, C20) Median = 5.8 years
[
  • 2,458 cases
  • , 398,354 controls
]
,
46.5 % Male samples
 — European — UKB —