PGS Publication: PGP000355

Publication Information (EuropePMC)
Title Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers.
PubMed ID 35761208(Europe PMC)
doi 10.1186/s12885-022-09780-1
Publication Date June 27, 2022
Journal BMC Cancer
Author(s) Borde J, Laitman Y, Blümcke B, Niederacher D, Weber-Lassalle K, Sutter C, Rump A, Arnold N, Wang-Gohrke S, Horváth J, Gehrig A, Schmidt G, Dutrannoy V, Ramser J, Hentschel J, Meindl A, Schroeder C, Wappenschmidt B, Engel C, Kuchenbaecker K, Schmutzler RK, Friedman E, Hahnen E, Ernst C.
Released in PGS Catalog: Aug. 3, 2022

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
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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
Scoring File (FTP Link)
PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
Breast cancer breast carcinoma 88
PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
Estrogen receptor [ER]-negative breast cancer estrogen-receptor negative breast cancer 53

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
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM014912 PGS000045
Ancestry Not Reported|
295 individuals
PGP000355 |
Borde J et al. BMC Cancer (2022)
Reported Trait: Breast cancer in BRAC1 PV carriers OR: 1.62 [1.16, 2.31] effective SNP set size of N=77
PPM014913 PGS000047
Ancestry Not Reported|
295 individuals
PGP000355 |
Borde J et al. BMC Cancer (2022)
Reported Trait: Estrogen receptor [ER]-negative breast cancer in BRAC2 PV carriers OR: 2.27 [1.45, 3.78] effective SNP set size of N=50

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
PSS009925 295 individuals,
0.0 % Male samples
Not reported IARC