Polygenic Score (PGS) ID: PGS018538

Predicted Trait
Reported Trait Malignant neoplasm of female breast
Mapped Trait(s) female breast carcinoma (MONDO_0004379)
Released in PGS Catalog: July 29, 2026
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Score Details

Score Construction
PGS Name TPMI_174.11_PRS-CS
Development Method
Name PRS-CS
Parameters phi1e-05
Variants
Original Genome Build GRCh38
Number of Variants 983,756
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000835
Citation (link to publication) Chen HH et al. Nature (2025)
Ancestry Distribution
Source of Variant
Associations (GWAS)
East Asian: 100%
326,227 individuals (100%)
Score Development/Training
East Asian: 100%
73,949 individuals (100%)
PGS Evaluation
East Asian: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
[
  • 12,566 cases
  • , 313,661 controls
]
,
47.15 % Male samples
East Asian
(Han Chinese)
TPMI
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
[
  • 4,385 cases
  • , 69,564 controls
]
,
49.54 % Male samples
East Asian
(Han Chinese)
TPMI 174, 175, 233, 238.3, 239.3, V10.3,C50, D05, D48.6, D49.3, 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
PPM036720 PSS012430|
East Asian Ancestry|
9,206 individuals
PGP000835 |
Chen HH et al. Nature (2025)
Reported Trait: Malignant neoplasm of female breast AUROC: 0.67426 : 0.04958 sex, age, array, PCs 1-10

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
PSS012430 174, V10.3,C50
[
  • 925 cases
  • , 8,281 controls
]
,
0.0 % Male samples
East Asian
(Han Chinese)
TPMI