Polygenic Score (PGS) ID: PGS000498

Predicted Trait
Reported Trait Breast cancer (female)
Mapped Trait(s) breast carcinoma (EFO_0000305)
Additional Trait Information PheCode 174.1
Released in PGS Catalog: Dec. 15, 2020
Download Score FTP directory
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 PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_P_5e-08_UKB_20200608
Variants
Original Genome Build GRCh37
Number of Variants 257
Development Method
Name GWAS Hits
Parameters LD Clumping (MAF >= 1%, r^2 <= 0.1) & P<=5e-08
PGS Source
PGS Catalog Publication (PGP) ID PGP000118
Citation (link to publication) Fritsche LG et al. Am J Hum Genet (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
1,063,736 individuals (100%)
Score Development/Training
European: 100%
68,451 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
Europe PMC: 29059683
[
  • 69,501 cases
  • , 105,974 controls
]
European
Europe PMC: 29059683
[
  • 21,468 cases
  • , 105,974 controls
]
European
Europe PMC: 29059683
[
  • 122,977 cases
  • , 105,974 controls
]
European
Europe PMC: 29059683
[
  • 69,501 cases
  • , 105,974 controls
]
European
Europe PMC: 29059683
[
  • 21,468 cases
  • , 105,974 controls
]
European
Europe PMC: 29059683
[
  • 122,977 cases
  • , 105,974 controls
]
European
Score Development/Training
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
PheCode:174.1; ICD9:233.0; ICD10:C50.0, C50.1, C50.2, C50.3, C50.4, C50.5, C50.6, C50.8, C50.9, D05.1, D05.7, D05.9, Z85.3
[
  • 6,234 cases
  • , 62,217 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
PPM001183 PSS000570|
European Ancestry|
68,531 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Breast cancer [female] OR: 1.513 [1.474, 1.553]
β: 0.414 (0.0133)
AUROC: 0.613 [0.606, 0.621] Nagelkerke's Pseudo-R²: 0.0311
Brier score: 0.0815
Odds Ratio (OR, top 1% vs. Rest): 2.71 [2.28, 3.23]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_P_5e-08_UKB_20200608

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
PSS000570 PheCode:174.1; ICD9:233.0; ICD10:C50.0, C50.1, C50.2, C50.3, C50.4, C50.5, C50.6, C50.8, C50.9, D05.1, D05.7, D05.9, Z85.3
[
  • 6,242 cases
  • , 62,289 controls
]
European UKB