PGS Publication: PGP000167

Publication Information (EuropePMC)
Title Common Susceptibility Loci for Male Breast Cancer.
PubMed ID 32785646(Europe PMC)
doi 10.1093/jnci/djaa101
Publication Date April 1, 2021
Journal J Natl Cancer Inst
Author(s) Maguire S, Perraki E, Tomczyk K, Jones ME, Fletcher O, Pugh M, Winter T, Thompson K, Cooke R, kConFab Consortium, Trainer A, James P, Bojesen S, Flyger H, Nevanlinna H, Mattson J, Friedman E, Laitman Y, Palli D, Masala G, Zanna I, Ottini L, Silvestri V, Hollestelle A, Hooning MJ, Novaković S, Krajc M, Gago-Dominguez M, Castelao JE, Olsson H, Hedenfalk I, Saloustros E, Georgoulias V, Easton DF, Pharoah P, Dunning AM, Bishop DT, Neuhausen SL, Steele L, Ashworth A, Garcia Closas M, Houlston R, Swerdlow A, Orr N.
Released in PGS Catalog: April 28, 2021

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)
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South Asian
Additional Asian Ancestries
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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
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
PGS000005
(PRS313_ERpos)
 PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
 ER-positive breast cancer estrogen-receptor positive breast cancer 313
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000005/ScoringFiles/PGS000005.txt.gz
PGS000006
(PRS313_ERneg)
 PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
 ER-negative breast cancer estrogen-receptor negative breast cancer 313
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000006/ScoringFiles/PGS000006.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
PPM001947 PGS000005
(PRS313_ERpos)
 PSS000974|
European Ancestry|
5,714 individuals
 PGP000167 |
Maguire S et al. J Natl Cancer Inst (2021)
|Ext.		 Reported Trait: Breast cancer in males OR: 1.55 [1.45, 1.66] — Odds Ratio (OR, top 20% vs. bottom 20%): 4.01 [3.17, 5.06] — —
PPM001948 PGS000005
(PRS313_ERpos)
 PSS000974|
European Ancestry|
5,714 individuals
 PGP000167 |
Maguire S et al. J Natl Cancer Inst (2021)
|Ext.		 Reported Trait: Breast cancer in females OR: 1.5 [1.41, 1.6] — Odds Ratio (OR, top 20% vs. bottom 20%): 3.26 [2.64, 4.03] — —
PPM001949 PGS000006
(PRS313_ERneg)
 PSS000974|
European Ancestry|
5,714 individuals
 PGP000167 |
Maguire S et al. J Natl Cancer Inst (2021)
|Ext.		 Reported Trait: Breast cancer in males OR: 1.37 [1.29, 1.47] — Odds Ratio (OR, top 20% vs. bottom 20%): 2.39 [1.93, 2.96] — —
PPM001950 PGS000006
(PRS313_ERneg)
 PSS000974|
European Ancestry|
5,714 individuals
 PGP000167 |
Maguire S et al. J Natl Cancer Inst (2021)
|Ext.		 Reported Trait: Breast cancer in females OR: 1.38 [1.29, 1.47] — Odds Ratio (OR, top 20% vs. bottom 20%): 2.51 [2.05, 3.07] — —
PPM001945 PGS000004
(PRS313_BC)
 PSS000974|
European Ancestry|
5,714 individuals
 PGP000167 |
Maguire S et al. J Natl Cancer Inst (2021)
|Ext.		 Reported Trait: Breast cancer in males OR: 1.55 [1.45, 1.66] — Odds Ratio (OR, top 20% vs. bottom 20%): 3.86 [3.07, 4.87] — —
PPM001946 PGS000004
(PRS313_BC)
 PSS000974|
European Ancestry|
5,714 individuals
 PGP000167 |
Maguire S et al. J Natl Cancer Inst (2021)
|Ext.		 Reported Trait: Breast cancer in females OR: 1.51 [1.42, 1.61] — Odds Ratio (OR, top 20% vs. bottom 20%): 3.38 [2.74, 4.18] — —

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
PSS000974 Cases are individuals with breast cancer. 1380 of these are male breast cancer cases and 1671 are female breast cancer cases —
[
  • 3,051 cases
  • , 2,663 controls
]
,
48.07 % Male samples
 — European — B58C, COH, UK-BCN-MBCS, UKBGS Additional male breast cancer cases were recruited from the University of Leeds, the University of Cambridge.