Trait: estrogen-receptor positive breast cancer

Information

Experimental Factor Ontology ID: EFO_1000649

EFO Trait Description: a subtype of breast cancer that is estrogen-receptor positive [EFO: 1000649]

Associated PGS

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
PPM000002 PGS000002 (PRS77_ERpos) PSS000003 Mavaddat N et al. (2015) Reported Trait: ER-positive breast cancer OR: 1.63 [1.6 - 1.67]
PPM000012 PGS000002 (PRS77_ERpos) PSS000005 Mavaddat N et al. (2018) Ext. Reported Trait: ER-positive breast cancer OR: 1.52 [1.48 - 1.56] AUROC: 0.615 study, genetic PCs 1-15
PPM000006 PGS000005 (PRS313_ERpos) PSS000005 Mavaddat N et al. (2018) Reported Trait: ER-positive breast cancer OR: 1.68 [1.63 - 1.73] AUROC: 0.641 study, genetic PCs 1-15
PPM000009 PGS000008 (PRS3820_ERpos) PSS000005 Mavaddat N et al. (2018) Reported Trait: ER-positive breast cancer OR: 1.73 [1.68 - 1.78] AUROC: 0.647 study, genetic PCs 1-15

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
PSS000003 ER-positive breast cancer 53,923 individuals
[ 21,365 cases, 32,558 controls]
European ABCS, ABCFS, BBCC, BIGGS, BSUCH, CECILE, CTS, CGPS, ESTHER, GENICA, HMBCS, SZBCS, pKARMA, KBCP, ORIGO, LMBC, MARIE, MCBCS, MCCS, MTLGEBCS, MEC, NBHS, NorBCS, OBCS, PBCS, RPCI, SBCS, SASBAC, SKKDKFZS, SEARCH, OSU, UKBGS, DEMOKRITOS iCOGS
PSS000005 ER-positive breast cancer cases 11,428 individuals
[ 7,992 cases, 3,436 controls]
0.0 % Male samples
European AHS, BGS, PROCAS, EPIC, FHRISK, NHS2, NHS, PLCO, KARMA, SISTER Prospective Test Set