PGS Publication: PGP000706

Publication Information (EuropePMC)
Title The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
PubMed ID 38153744(Europe PMC)
doi 10.1001/jamaoncol.2023.5468
Publication Date Feb. 1, 2024
Journal JAMA Oncol
Author(s) Bolze A, Cirulli ET, Hajek C, Schnell Blitstein JM, Grzymski JJ.
Released in PGS Catalog: Feb. 26, 2025

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

External PGS Evaluated By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS000004
(PRS313_BC)
 PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
 Breast cancer breast carcinoma 313
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000004/ScoringFiles/PGS000004.txt.gz

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) 		Evaluated Score 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
PPM022380 PGS000004
(PRS313_BC)
 PSS011931|
Multi-ancestry (including European)|
25,591 individuals
 PGP000706 |
Bolze A et al. JAMA Oncol (2024)
|Ext.		 Reported Trait: breast cancer diagnosis — — Hazard ratio (HR, low vs average tertile): 0.39 [0.29, 0.52] — —

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
PSS011931 — — 3,728 individuals,
0.0 % Male samples
 — Hispanic or Latin American — HNP —
PSS011931 — — 832 individuals,
0.0 % Male samples
 — East Asian — HNP —
PSS011931 — — 19,484 individuals,
0.0 % Male samples
 — European — HNP —
PSS011931 — — 929 individuals,
0.0 % Male samples
 — Not reported — HNP —
PSS011931 — — 119 individuals,
0.0 % Male samples
 — South East Asian — HNP —
PSS011931 — — 499 individuals,
0.0 % Male samples
 — African unspecified — HNP —