Polygenic Score (PGS) ID: PGS004688

Predicted Trait
Reported Trait Breast cancer
Mapped Trait(s) breast carcinoma (EFO_0000305)
Released in PGS Catalog: March 18, 2024
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Score Details

Score Construction
PGS Name breast_cancer
Development Method
Name SDPR
Parameters NR
Variants
Original Genome Build hg19
Number of Variants 1,044,110
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000596
Citation (link to publication) Hu J et al. JNCI Cancer Spectr (2024)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
247,173 individuals (100%)
Score Development/Training
European: 100%
191,172 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST010098
Europe PMC: 32424353
 247,173 individuals European NR
Score Development/Training
Study Identifiers Sample Numbers Sample Ancestry Cohort(s) Phenotype Definitions & Methods Age of Study Participants Participant Follow-up Time Additional Ancestry Description Additional Sample/Cohort Information
—
[
  • 7,590 cases
  • , 183,582 controls
]
 European UKB — — — — —

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) 		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
PPM020873 PSS011432|
European Ancestry|
21,249 individuals
 PGP000596 |
Hu J et al. JNCI Cancer Spectr (2024)
 Reported Trait: Breast cancer — AUROC: 0.665 — — —

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
PSS011432 — —
[
  • 817 cases
  • , 20,432 controls
]
 — European — UKB —