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.


PGS Catalog Publication (PGP) ID: PGP000037
PubMed ID: 31186341
doi: 10.1136/jmedgenet-2019-106072

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 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 (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)

Evaluated Samples

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