Polygenic Score (PGS) ID: PGS000530

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
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Score Details

Score Construction
PGS Name PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PT_UKB_20200608
Development Method
Name Pruning and Thresholding (P+T)
Parameters LD Clumping (MAF >= 1%, r^2 <= 0.1) & P<=3.98e-06
Variants
Original Genome Build GRCh37
Number of Variants 174
Effect Weight Type NR
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 Cohort(s)
Europe PMC: 29059683
[
  • 69,501 cases
  • , 105,974 controls
]
 European NR
Europe PMC: 29059683
[
  • 21,468 cases
  • , 105,974 controls
]
 European NR
Europe PMC: 29059683
[
  • 122,977 cases
  • , 105,974 controls
]
 European NR
Europe PMC: 29059683
[
  • 69,501 cases
  • , 105,974 controls
]
 European NR
Europe PMC: 29059683
[
  • 21,468 cases
  • , 105,974 controls
]
 European NR
Europe PMC: 29059683
[
  • 122,977 cases
  • , 105,974 controls
]
 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
Europe PMC: 32991828
[
  • 6,234 cases
  • , 62,217 controls
]
 European UKB 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 — — — —

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
PPM001215 PSS000570|
European Ancestry|
68,531 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Breast cancer [female] OR: 1.441 [1.404, 1.479]
β: 0.365 (0.0132)		 AUROC: 0.6 [0.593, 0.608] Nagelkerke's Pseudo-R²: 0.0245
Brier score: 0.0818
Odds Ratio (OR, top 1% vs. Rest): 2.92 [2.47, 3.46]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PT_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 —