Polygenic Score (PGS) ID: PGS003979

Predicted Trait
Reported Trait Colorectal cancer
Mapped Trait(s) colorectal carcinoma (EFO_1001951)
Released in PGS Catalog: Jan. 11, 2024
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Score Details

Score Construction
PGS Name CRC_PRSCS
Development Method
Name PRS-CS
Parameters PRS-CS-auto, 1000G European sample (N = 503) as the external LD reference panel
Variants
Original Genome Build GRCh38
Number of Variants 1,088,133
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000515
Citation (link to publication) Tamlander M et al. Br J Cancer (2023)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
185,616 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: GCST90255675
Europe PMC: 36539618
 185,616 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
PPM019147 PSS011211|
European Ancestry|
453,733 individuals
 PGP000515 |
Tamlander M et al. Br J Cancer (2023)
 Reported Trait: Colorectal cancer OR: 1.63 [1.6, 1.67] AUROC: 0.795 [0.791, 0.799] — year of birth, sex, ten first principal components of ancestry, genotyping batch, 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
PSS011211 Colorectal cancer cases were identified through the Finnish Cancer Registry with International Classification of Diseases for Oncology, 3rd Edition (ICD-O-3) codes C18-C20 and from the death registry with ICD-10 codes C18-C20, or ICD-9 codes of 153, 1540 and 154, or ICD-8 codes of 153, 1540 and 1541. Median = 4.1 years
[
  • 8,801 cases
  • , 444,932 controls
]
,
43.9 % Male samples
 Mean = 52.9 years
Sd = 18.0 years		 European
(Finnish)		 — FinnGen —