PGS Publication: PGP000037

Publication Information (EuropePMC)
Title Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-BRCA1/2 breast cancer families.
PubMed ID 31186341(Europe PMC)
doi 10.1136/jmedgenet-2019-106072
Publication Date June 11, 2019
Journal J Med Genet
Author(s) Lakeman IMM, Hilbers FS, Rodríguez-Girondo M, Lee A, Vreeswijk MPG, Hollestelle A, Seynaeve C, Meijers-Heijboer H, Oosterwijk JC, Hoogerbrugge N, Olah E, Vasen HFA, van Asperen CJ, Devilee P.
Released in PGS Catalog: Dec. 18, 2019

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
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PGS Developed 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)
PGP000037 |
Lakeman IMM et al. J Med Genet (2019)
Breast cancer breast carcinoma 161

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
PPM000131 PGS000052
European Ancestry|
585 individuals
PGP000037 |
Lakeman IMM et al. J Med Genet (2019)
Reported Trait: breast cancer HR: 1.16 [1.03, 1.28] family history (estimated using the BOADICEA risk model)

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
PSS000082 A family-based cohort including 323 breast cancer cases and 262 unaffected relatives from 101 families. Unaffected relatives derived from 49 out of 101 families.
  • 323 cases
  • , 262 controls
0.0 % Male samples
Mean (Cases) = 51.0 years
Sd (Cases) = 11.0 years
European NR