Polygenic Score (PGS) ID: PGS004611

Predicted Trait
Reported Trait Breast cancer
Mapped Trait(s) breast carcinoma (EFO_0000305)
Released in PGS Catalog: Feb. 20, 2024
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Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name RORP_PRS
Development Method
Name Genome-wide significant SNPs
Parameters r2 = 0.049, p-value threshold = 0.375
Variants
Original Genome Build NR
Number of Variants 76
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000590
Citation (link to publication) Shieh Y et al. NPJ Precis Oncol (2023)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 92.8%
East Asian: 5.9%
Hispanic or Latin American: 0.7%
African: 0.6%
677,702 individuals (100%)
Score Development/Training
European: 58.6%
Multi-ancestry (including European): 21%
  • European
  • Not Reported
African: 11.1%
Additional Asian Ancestries: 5%
Not Reported: 4.3%
2,363 individuals (100%)
PGS Evaluation
Multi-ancestry (including European): 100%
  • European
  • Not Reported
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST001937
Europe PMC: 23535729
 22,627 individuals European NR
GWAS Catalog: GCST005077
Europe PMC: 29058716
 87,827 individuals European NR
GWAS Catalog: GCST004988
Europe PMC: 29059683
 139,274 individuals European NR
GWAS Catalog: GCST003520
Europe PMC: 27354352
 13,905 individuals East Asian NR
GWAS Catalog: GCST001816
Europe PMC: 23319801
 536 individuals European NR
GWAS Catalog: GCST004950
Europe PMC: 25751625
 33,864 individuals European NR
GWAS Catalog: GCST002537
Europe PMC: 25038754
 9,450 individuals East Asian NR
GWAS Catalog: GCST002305
Europe PMC: 24325915
 4,928 individuals European NR
GWAS Catalog: GCST010098
Europe PMC: 32424353
 247,173 individuals European NR
GWAS Catalog: GCST002861
Europe PMC: 25890600
 37,954 individuals European NR
GWAS Catalog: GCST002346
Europe PMC: 24493630
 6,225 individuals European NR
GWAS Catalog: GCST002234
Europe PMC: 24143190
 4,741 individuals East Asian NR
GWAS Catalog: GCST002847
Europe PMC: 25867717
 1,732 individuals East Asian NR
GWAS Catalog: GCST001224
Europe PMC: 21908515
 4,128 individuals East Asian NR
GWAS Catalog: GCST002727
Europe PMC: 25526632
 1,341 individuals European NR
GWAS Catalog: GCST001683
Europe PMC: 22976474
 32,530 individuals European NR
GWAS Catalog: GCST001683
Europe PMC: 22976474
 3,748 individuals African American or Afro-Caribbean NR
GWAS Catalog: GCST000709
Europe PMC: 20585626
 4,157 individuals East Asian NR
GWAS Catalog: GCST002662
Europe PMC: 25327703
 4,710 individuals Hispanic or Latin American NR
GWAS Catalog: GCST000678
Europe PMC: 20453838
 8,556 individuals European NR
GWAS Catalog: GCST000952
Europe PMC: 21263130
 6,346 individuals European NR
GWAS Catalog: GCST001373
Europe PMC: 22232737
 1,950 individuals East Asian 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
— 1,385 individuals,
0.0 % Male samples
 European I-SPY2, TCGA — — — — —
— 262 individuals,
0.0 % Male samples
 African American or Afro-Caribbean I-SPY2, TCGA — — — — —
— 118 individuals,
0.0 % Male samples
 Asian unspecified I-SPY2, TCGA — — — — —
— 102 individuals,
0.0 % Male samples
 Not reported I-SPY2, TCGA — — — — —
— 496 individuals,
0.0 % Male samples
 European, Not reported Metabric — — — — —

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
PPM020786 PSS011411|
Multi-ancestry (including European)|
10,196 individuals
 PGP000590 |
Shieh Y et al. NPJ Precis Oncol (2023)
 Reported Trait: Breast cancer-specific survival HR: 1.13 [1.06, 1.21] — — 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
PSS011411 — — 10,196 individuals,
0.0 % Male samples
 — European, Not reported — Pathways, UKB —