Trait: estrogen-receptor negative breast cancer

Information

Experimental Factor Ontology ID: EFO_1000650

EFO Trait Description: a subtype of breast cancer that is estrogen-receptor negative [EFO: 1000650]

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
PPM000003 PGS000003 (PRS77_ERneg) PSS000002 Mavaddat N et al. (2015) Reported Trait: ER-negative breast cancer OR: 1.45 [1.4 - 1.49]
PPM000013 PGS000003 (PRS77_ERneg) PSS000006 Mavaddat N et al. (2018) Ext. Reported Trait: ER-negative breast cancer OR: 1.35 [1.27 - 1.43] AUROC: 0.584 study, genetic PCs 1-15
PPM000007 PGS000006 (PRS313_ERneg) PSS000006 Mavaddat N et al. (2018) Reported Trait: ER-negative breast cancer OR: 1.45 [1.37 - 1.53] AUROC: 0.601 study, genetic PCs 1-15
PPM000010 PGS000009 (PRS3820_ERneg) PSS000006 Mavaddat N et al. (2018) Reported Trait: ER-negative breast cancer OR: 1.44 [1.36 - 1.53] AUROC: 0.6 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
PSS000002 ER-negative breast cancer 38,722 individuals
[ 5,738 cases, 32,984 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
PSS000006 ER-negative breast cancer cases 11,428 individuals
[ 1,259 cases, 10,169 controls]
0.0 % Male samples
European AHS, BGS, PROCAS, EPIC, FHRISK, NHS2, NHS, PLCO, KARMA, SISTER Prospective Test Set