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. |
Polygenic Score ID & Name | PGS Publication ID (PGP) | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants |
Ancestry distribution GWAS Dev Eval |
Scoring File (FTP Link) |
---|---|---|---|---|---|---|
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 | |
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 | |
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 |
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 | — |
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 | — | — | [ ,
0.0 % Male samples |
— | European | — | NR | UKB |