Polygenic Score (PGS) ID: PGS000216

Predicted Trait
Reported Trait Breast cancer intrinsic-like subtype (triple negative)
Mapped Trait(s) triple-negative breast cancer (EFO_0005537)
Released in PGS Catalog: July 14, 2020
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Score Details

Score Construction
PGS Name PRS330_TN
Original Genome Build GRCh37
Number of Variants 330
Development Method
Name Fixed-effects two-stage polytomous model
Parameters 313 variants from Mavaddat et al (PGS000004) plus 17 independent variants (P < 5.0 × 10−8, r2 threshold 0.1) from this publication, weights derived from the all-subtype analysis
PGS Source
PGS Catalog Publication (PGP) ID PGP000088
Citation (link to publication) Zhang H et al. Nat Genet (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
197,755 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
GWAS Catalog: GCST010099
Europe PMC: 32424353
197,755 individuals European

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
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM000661 PSS000363|
European Ancestry|
22,821 individuals
PGP000088 |
Zhang H et al. Nat Genet (2020)
Reported Trait: Breast cancer intrinsic-like subtype (triple negative) OR: 1.65 [1.57, 1.73] AUROC: 0.6358

Evaluated Samples

PGS Sample Set ID
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
PSS000363 Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (5) triple-negative ( ER-, PR-, HER2-). 
  • 2,006 cases
  • , 20,815 controls
0.0 % Male samples
European 6 cohorts
  • BCAC
  • ,MMHS
  • ,PLCO
  • ,UKBGS
  • ,pKARMA
Heldout subset (20%) of the BCAC consortium data