PGS Publication: PGP000441

Publication Information (EuropePMC)
Title Validation of a genetic-enhanced risk prediction model for colorectal cancer in a large community-based cohort.
PubMed ID 36622766(Europe PMC)
doi 10.1158/1055-9965.epi-22-0817
Publication Date Jan. 9, 2023
Journal Cancer Epidemiol Biomarkers Prev
Author(s) Su YR, Sakoda LC, Jeon J, Thomas M, Lin Y, Schneider JL, Udaltsova N, Lee JK, Lansdorp-Vogelaar I, Peterse EFP, Zauber AG, Zheng J, Zheng Y, Hauser E, Baron JA, Barry EL, Bishop DT, Brenner H, Buchanan DD, Burnett-Hartman A, Campbell PT, Casey G, Castellví-Bel S, Chan AT, Chang-Claude J, Figueiredo JC, Gallinger SJ, Giles GG, Gruber SB, Gsur A, Gunter MJ, Hampe J, Hampel H, Harrison TA, Hoffmeister M, Hua X, Huyghe JR, Jenkins MA, Keku TO, Le Marchand L, Li L, Lindblom A, Moreno V, Newcomb PA, Pharoah PDP, Platz EA, Potter JD, Qu C, Rennert G, Schoen RE, Slattery ML, Song M, van Duijnhoven FJB, Van Guelpen B, Vodicka P, Wolk A, Woods MO, Wu AH, Hayes RB, Peters U, Corley DA, Hsu L.
Released in PGS Catalog: March 3, 2023

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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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
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS003439
(PRSCC_140)
 PGP000441 |
Su YR et al. Cancer Epidemiol Biomarkers Prev (2023)
 Colorectal cancer colorectal cancer 140
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003439/ScoringFiles/PGS003439.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
PPM017158 PGS003439
(PRSCC_140)
 PSS010138|
European Ancestry|
66,282 individuals
 PGP000441 |
Su YR et al. Cancer Epidemiol Biomarkers Prev (2023)
 Reported Trait: 5 year colorectal cancer risk — AUROC: 0.73 [0.71, 0.76] — age, first-degree CRC family history, sex, endoscopy history —
PPM017159 PGS003439
(PRSCC_140)
 PSS010138|
European Ancestry|
66,282 individuals
 PGP000441 |
Su YR et al. Cancer Epidemiol Biomarkers Prev (2023)
 Reported Trait: 10 year colorectal cancer risk — AUROC: 0.72 [0.7, 0.74] — age, first-degree CRC family history, sex, endoscopy history —

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
PSS010138 — — 66,282 individuals,
42.3 % Male samples
 Median = 63.0 years European — GERA —