PGS Publication: PGP000767

Publication Information (EuropePMC)
Title Breast Cancer Polygenic Risk Score Validation and Effects of Variable Imputation.
PubMed ID 38672660(Europe PMC)
doi 10.3390/cancers16081578
Publication Date April 20, 2024
Journal Cancers (Basel)
Author(s) Beck JJ, Slunecka JL, Johnson BN, Van Asselt AJ, Finnicum CT, Ageton C, Krie A, Nickles H, Cowan K, Maxwell J, Boomsma DI, de Geus E, Ehli EA, Hottenga JJ.
Released in PGS Catalog: Oct. 6, 2025

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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Ancestry legend
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Multi-ancestry (excluding European)
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Greater Middle Eastern
Hispanic or Latin American
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)
PGS000004
(PRS313_BC)
 PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
 Breast cancer breast carcinoma 313
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000004/ScoringFiles/PGS000004.txt.gz
PGS000007
(PRS3820_BC)
 PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
 Breast cancer breast carcinoma 3,820
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000007/ScoringFiles/PGS000007.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
PPM023067 PGS000004
(PRS313_BC)
 PSS012107|
European Ancestry|
4,805 individuals
 PGP000767 |
Beck JJ et al. Cancers (Basel) (2024)
|Ext.		 Reported Trait: Breast cancer β: 0.03 (0.004) AUROC: 0.596 R²: 0.15 age, 10 PCs —
PPM023068 PGS000007
(PRS3820_BC)
 PSS012107|
European Ancestry|
4,805 individuals
 PGP000767 |
Beck JJ et al. Cancers (Basel) (2024)
|Ext.		 Reported Trait: Breast cancer β: 0.029 (0.004) AUROC: 0.603 R²: 0.153 age, 10 PCs —

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
PSS012107 — — 4,805 individuals,
0.0 % Male samples
 — European — BCCR, NTR, iCaRe2 —