PGS Publication: PGP000572

Publication Information (EuropePMC)
Title Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival.
PubMed ID 36689693(Europe PMC)
doi 10.1200/jco.22.01978
Publication Date Jan. 23, 2023
Journal J Clin Oncol
Author(s) Lopes Cardozo JMN, Andrulis IL, Bojesen SE, Dörk T, Eccles DM, Fasching PA, Hooning MJ, Keeman R, Nevanlinna H, Rutgers EJT, Easton DF, Hall P, Pharoah PDP, van 't Veer LJ, Schmidt MK, Breast Cancer Association Consortium and MINDACT Collaborators.
Released in PGS Catalog: Jan. 26, 2024

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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Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
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
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
PPM020724 PGS000004
(PRS313_BC)
 PSS011385|
European Ancestry|
683 individuals
 PGP000572 |
Lopes Cardozo JMN et al. J Clin Oncol (2023)
|Ext.		 Reported Trait: Grade 3 tumour in females with invasive breast cancer OR: 0.8 [0.65, 0.99] — — — Reference = grade 1 tumour
PPM020725 PGS000004
(PRS313_BC)
 PSS011385|
European Ancestry|
683 individuals
 PGP000572 |
Lopes Cardozo JMN et al. J Clin Oncol (2023)
|Ext.		 Reported Trait: ER negative status in females with invasive breast cancer OR: 0.8 [0.65, 0.99] — — — —
PPM020726 PGS000004
(PRS313_BC)
 PSS011384|
Additional Asian Ancestries|
12,920 individuals
 PGP000572 |
Lopes Cardozo JMN et al. J Clin Oncol (2023)
|Ext.		 Reported Trait: ER negative status in females with invasive breast cancer OR: 0.86 [0.82, 0.89] — — — —
PPM020727 PGS000004
(PRS313_BC)
 PSS011385|
European Ancestry|
683 individuals
 PGP000572 |
Lopes Cardozo JMN et al. J Clin Oncol (2023)
|Ext.		 Reported Trait: PR negative status in females with invasive breast cancer OR: 0.84 [0.71, 1.0] — — — —
PPM020728 PGS000004
(PRS313_BC)
 PSS011384|
Additional Asian Ancestries|
12,920 individuals
 PGP000572 |
Lopes Cardozo JMN et al. J Clin Oncol (2023)
|Ext.		 Reported Trait: PR negative status in females with invasive breast cancer OR: 0.89 [0.86, 0.94] — — — —

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
PSS011384 — — 12,920 individuals,
0.0 % Male samples
 Mean = 50.9 years
Sd = 11.1 years		 Asian unspecified — BCAC —
PSS011385 — — 683 individuals,
0.0 % Male samples
 Mean = 54.4 years
Sd = 9.2 years		 European — MINDACT —