Polygenic Score (PGS) ID: PGS004737

Predicted Trait
Reported Trait Breast cancer
Mapped Trait(s) breast carcinoma (EFO_0000305)
Released in PGS Catalog: March 28, 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 breast_cancer_PRSmix_eur
Development Method
Name PRSmix
Parameters power=0.95; p=1.83e-05
Variants
Original Genome Build hg38
Number of Variants 3,666,245
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000604
Citation (link to publication) Truong B et al. Cell Genom (2024)
Ancestry Distribution
Score Development/Training
European: 100%
22,721 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

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
— 22,721 individuals European AllofUs Any occurrence of ICD9/10 code corresponding with PheCode174.1 (ICD-9 174x, V10.3; ICD-10, C50.01, C50.011, C50.21, C50.31, C50.41, C50.51, C50.61, C50.81, C50.91x, Z85.3) OR Self-reported personal medical history of breast cancer indicated on survey response AND female sex assigned-at-birth. ICD-9/10 codes indicating DCIS were excluded. ICD-9/10 codes specific to male breast cancer were excluded. — — — —

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
PPM020962 PSS011486|
European Ancestry|
5,680 individuals
 PGP000604 |
Truong B et al. Cell Genom (2024)
 Reported Trait: Breast cancer — — Incremental R2 (Full model versus model with only covariates): 0.038 [0.028, 0.048] age, sex, PC1, PC2, PC3, PC4, PC5, PC6, PC7, PC8, PC9, PC10 Incremental R2 (Full model versus model with only covariates)

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
PSS011486 — — 5,680 individuals — European — AllofUs —