PGS Publication: PGP000730

Publication Information (EuropePMC)
Title Assessment of a Polygenic Risk Score in Screening for Prostate Cancer.
PubMed ID 40214032(Europe PMC)
doi 10.1056/nejmoa2407934
Publication Date April 1, 2025
Journal N Engl J Med
Author(s) McHugh JK, Bancroft EK, Saunders E, Brook MN, McGrowder E, Wakerell S, James D, Rageevakumar R, Benton B, Taylor N, Myhill K, Hogben M, Kinsella N, Sohaib AA, Cahill D, Hazell S, Withey SJ, Mcaddy N, Page EC, Osborne A, Benafif S, Jones AB, Patel D, Huang DY, Kaur K, Russell B, Nicholson R, Croft F, Sobczak J, McNally C, Mutch F, Bennett S, Kingston L, Karlsson Q, Dadaev T, Saya S, Merson S, Wood A, Dennis N, Hussain N, Thwaites A, Hussain S, Rafi I, Ferris M, Kumar P, James ND, Pashayan N, Kote-Jarai Z, Eeles RA, BARCODE1 Steering Committee and Collaborators.
Released in PGS Catalog: May 20, 2025

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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Additional Diverse Ancestries
Not Reported

External PGS Evaluated 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)
PGS005205
(PRS130_Pca)
 PGP000726 |
Benafif S et al. BJU Int (2021)
 Prostate cancer prostate carcinoma 130
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005205/ScoringFiles/PGS005205.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
PPM022590 PGS005205
(PRS130_Pca)
 PSS012025|
European Ancestry|
6,393 individuals
 PGP000730 |
McHugh JK et al. N Engl J Med (2025)
|Ext.		 Reported Trait: clinically significant prostate cancer in screened individuals OR: 1.98 [0.98, 4.03] AUROC: 0.55 [0.49, 0.61] Percent of screened particpants diagnosed with cancer: 40.0 %
Percent of diagnosed cancers identified as intermediate or high risk: 55.1 %		 — —
PPM022591 PGS005205
(PRS130_Pca)
 PSS012025|
European Ancestry|
6,393 individuals
 PGP000730 |
McHugh JK et al. N Engl J Med (2025)
|Ext.		 Reported Trait: clinically significant prostate cancer in screened individuals OR: 2.24 [1.08, 4.65] — — Age, Family History, one of (PSA, PIRADS) —

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
PSS012025 "745 (11.7%) had a polygenic risk score in the 90th percentile or higher and were invited to undergo screening." — 6,393 individuals,
100.0 % Male samples
 — European — NR —