PGS Publication: PGP000279

Publication Information (EuropePMC)
Title Risk Stratification for Early-Onset Colorectal Cancer Using a Combination of Genetic and Environmental Risk Scores: An International Multi-Center Study.
PubMed ID 35026030(Europe PMC)
doi 10.1093/jnci/djac003
Publication Date Jan. 13, 2022
Journal J Natl Cancer Inst
Author(s) Archambault AN, Jeon J, Lin Y, Thomas M, Harrison TA, Bishop DT, Brenner H, Casey G, Chan AT, Chang-Claude J, Figueiredo JC, Gallinger S, Gruber SB, Gunter MJ, Guo F, Hoffmeister M, Jenkins MA, Keku TO, Le Marchand L, Li L, Moreno V, Newcomb PA, Pai R, Parfrey PS, Rennert G, Sakoda LC, Lee JK, Slattery ML, Song M, Ko Win A, Woods MO, Murphy N, Campbell PT, Su YR, Lansdorp-Vogelaar I, Peterse EF, Cao Y, Zeleniuch-Jacquotte A, Liang PS, Du M, Corley DA, Hsu L, Peters U, Hayes RB.
Released in PGS Catalog: Jan. 24, 2022

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS002252
(PRS_CRC)
PGP000279 |
Archambault AN et al. J Natl Cancer Inst (2022)
Colorectal cancer colorectal cancer 141
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002252/ScoringFiles/PGS002252.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
PPM012805 PGS002252
(PRS_CRC)
PSS009566|
European Ancestry|
7,376 individuals
PGP000279 |
Archambault AN et al. J Natl Cancer Inst (2022)
Reported Trait: Early-onset colorectal cancer OR: 1.59 [1.51, 1.68] AUROC: 0.628 [0.613, 0.644] Age, sex, genotype platform, family history, principal components
PPM012806 PGS002252
(PRS_CRC)
PSS009566|
European Ancestry|
7,376 individuals
PGP000279 |
Archambault AN et al. J Natl Cancer Inst (2022)
Reported Trait: Early-onset colorectal cancer (men) AUROC: 0.61 [0.592, 0.651] Age, family history, genotype platform, principal components
PPM012807 PGS002252
(PRS_CRC)
PSS009566|
European Ancestry|
7,376 individuals
PGP000279 |
Archambault AN et al. J Natl Cancer Inst (2022)
Reported Trait: Early-onset colorectal cancer (women) AUROC: 0.633 [0.612, 0.655] Age, family history, genotype platform, principal components
PPM012808 PGS002252
(PRS_CRC)
PSS009566|
European Ancestry|
7,376 individuals
PGP000279 |
Archambault AN et al. J Natl Cancer Inst (2022)
Reported Trait: Proximal colon cancer OR: 1.38 [1.27, 1.5] AUROC: 0.592 [0.554, 0.63] Age, family history, genotype platform, principal components
PPM012809 PGS002252
(PRS_CRC)
PSS009566|
European Ancestry|
7,376 individuals
PGP000279 |
Archambault AN et al. J Natl Cancer Inst (2022)
Reported Trait: Distal colon cancer OR: 1.73 [1.6, 1.87] AUROC: 0.643 [0.614, 0.671] Age, family history, genotype platform, principal components
PPM012810 PGS002252
(PRS_CRC)
PSS009566|
European Ancestry|
7,376 individuals
PGP000279 |
Archambault AN et al. J Natl Cancer Inst (2022)
Reported Trait: Rectal cancer OR: 1.67 [1.55, 1.8] AUROC: 0.654 [0.63, 0.68] Age, family history, genotype platform, principal components

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
PSS009566
[
  • 3,486 cases
  • , 3,890 controls
]
Maximum = 50.0 years European 9 cohorts
  • CCFR
  • ,DACHS
  • ,DALS
  • ,EPIC
  • ,MECC
  • ,NCCCS
  • ,NFCCR
  • ,NHS
  • ,UKB
CRCGEN, Kentucky, LCCS