PGS Publication: PGP000515

Publication Information (EuropePMC)
Title Genome-wide polygenic risk scores for colorectal cancer have implications for risk-based screening
PubMed ID 38172535(Europe PMC)
doi 10.1038/s41416-023-02536-z
Publication Date Nov. 13, 2023
Journal Br J Cancer
Author(s) Tamlander M, Jermy B, Seppälä TT, Färkkilä M, FinnGen, Widén E, Ripatti S, Mars N.
Released in PGS Catalog: Jan. 11, 2024

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
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PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS003979
(CRC_PRSCS)
 PGP000515 |
Tamlander M et al. Br J Cancer (2023)
 Colorectal cancer colorectal carcinoma 1,088,133
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003979/ScoringFiles/PGS003979.txt.gz

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) 		Evaluated Score 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 PGS003979
(CRC_PRSCS)
 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 —