PGS Publication: PGP000455

Publication Information (EuropePMC)
Title Validation of an abridged breast cancer risk prediction model for the general population.
PubMed ID 36862830(Europe PMC)
doi 10.1158/1940-6207.capr-22-0460
Publication Date March 2, 2023
Journal Cancer Prev Res (Phila)
Author(s) Spaeth EL, Dite GS, Hopper JL, Allman R.
Released in PGS Catalog: March 24, 2023

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Greater Middle Eastern
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 Scoring File (FTP Link)
PGS000001
(PRS77_BC)
 PGP000001 |
Mavaddat N et al. J Natl Cancer Inst (2015)
 Breast cancer breast carcinoma 77
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000001/ScoringFiles/PGS000001.txt.gz
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
PPM017271 PGS000004
(PRS313_BC)
 PSS010184|
European Ancestry|
200,195 individuals
 PGP000455 |
Spaeth EL et al. Cancer Prev Res (Phila) (2023)
|Ext.		 Reported Trait: breast cancer HR: 1.45 [1.4, 1.49] C-index: 0.567 [0.556, 0.577] — — —
PPM017270 PGS000001
(PRS77_BC)
 PSS010184|
European Ancestry|
200,195 individuals
 PGP000455 |
Spaeth EL et al. Cancer Prev Res (Phila) (2023)
|Ext.		 Reported Trait: breast cancer HR: 1.38 [1.34, 1.42] C-index: 0.628 [0.618, 0.638] — — —

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
PSS010184 — —
[
  • 3,138 cases
  • , 197,057 controls
]
,
0.0 % Male samples
 Range = [40.0, 69.0] years European — UKB —