PGS Publication: PGP000344

Publication Information (EuropePMC)
Title Development and evaluation of polygenic risk scores for prediction of endometrial cancer risk in European women.
PubMed ID 35704044(Europe PMC)
doi 10.1016/j.gim.2022.05.014
Publication Date June 15, 2022
Journal Genet Med
Author(s) Bafligil C, Thompson DJ, Lophatananon A, Ryan NAJ, Smith MJ, Dennis J, Mekli K, O'Mara TA, Evans DG, Crosbie EJ.
Released in PGS Catalog: July 21, 2022

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

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)
PGS002737
(PRS72)
PGP000344 |
Bafligil C et al. Genet Med (2022)
Endometrial cancer endometrial carcinoma 72
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002737/ScoringFiles/PGS002737.txt.gz
PGS002735
(PRS19)
PGP000344 |
Bafligil C et al. Genet Med (2022)
Endometrial cancer endometrial carcinoma 19
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002735/ScoringFiles/PGS002735.txt.gz
PGS002736
(PRS24)
PGP000344 |
Bafligil C et al. Genet Med (2022)
Endometrial cancer endometrial carcinoma 24
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002736/ScoringFiles/PGS002736.txt.gz

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
(PSS)
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM014832 PGS002735
(PRS19)
PSS009907|
European Ancestry|
118,636 individuals
PGP000344 |
Bafligil C et al. Genet Med (2022)
Reported Trait: Risk of endometrial cancer AUROC: 0.56 [0.54, 0.57] Odds ratio (OR, third vs first tertile): 1.55 [1.37, 1.74]
PPM014833 PGS002736
(PRS24)
PSS009907|
European Ancestry|
118,636 individuals
PGP000344 |
Bafligil C et al. Genet Med (2022)
Reported Trait: Risk of endometrial cancer AUROC: 0.53 [0.52, 0.54] Odds ratio (OR, third vs first tertile): 1.27 [1.13, 1.43]
PPM014834 PGS002737
(PRS72)
PSS009907|
European Ancestry|
118,636 individuals
PGP000344 |
Bafligil C et al. Genet Med (2022)
Reported Trait: Risk of endometrial cancer AUROC: 0.54 [0.52, 0.55] Odds ratio (OR, third vs first tertile): 1.32 [1.17, 1.48]
PPM014835 PGS002735
(PRS19)
PSS009907|
European Ancestry|
118,636 individuals
PGP000344 |
Bafligil C et al. Genet Med (2022)
Reported Trait: Risk of endometrial cancer HR: 0.2 [0.15, 0.25] BMI
PPM014836 PGS002736
(PRS24)
PSS009907|
European Ancestry|
118,636 individuals
PGP000344 |
Bafligil C et al. Genet Med (2022)
Reported Trait: Risk of endometrial cancer HR: 0.11 [0.07, 0.16] BMI
PPM014837 PGS002737
(PRS72)
PSS009907|
European Ancestry|
118,636 individuals
PGP000344 |
Bafligil C et al. Genet Med (2022)
Reported Trait: Risk of endometrial cancer HR: 0.13 [0.08, 0.18] BMI

Evaluated Samples

PGS Sample Set ID
(PSS)
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
PSS009907
[
  • 1,676 cases
  • , 116,960 controls
]
,
0.0 % Male samples
European NR UKB