Publication: 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.
Publication Date: June 11, 2019
Journal: J Med Genet
Authors: 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.
PGS Associated with PGP000037
PGS Developed By This Study
PGS Performance MetricsDisclaimer: 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 (PPM) ID||Evaluated Score||PGS Catalog Sample Set (PSS) ID||Performance Source||Trait||
PGS Effect Sizes
(per SD change)
|PGS Classification Metrics||Other Metrics||Covariates Included in PGS Model||PGS Performance: Other Relevant Information|
|PPM000131||PGS000052 (sPRS161)||PSS000082||Lakeman IMM et al. (2019)||Reported Trait: breast cancer||HR: 1.16 [1.03 - 1.28]||—||—||family history (estimated using the BOADICEA risk model)||—|
|PGS Catalog Sample Set (PSS) ID||Detailed Phenotype Description (e.g. ICD/SNOMED codes used to identify cases)||Sample Numbers||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.||585 individuals
[ 323 cases, 262 controls]
0.00 %% Male samples