| Predicted Trait | |
| Reported Trait | Endometrial cancer |
| Mapped Trait(s) | endometrial carcinoma (EFO_1001512) |
| Score Construction | |
| PGS Name | CC_Endo |
| Development Method | |
| Name | Genome-wide significant variants |
| Parameters | P < 5e-8, MAF > 1%, biallelic SNPs, LD-thin r2 > 0.3 |
| Variants | |
| Original Genome Build | GRCh37 |
| Number of Variants | 9 |
| Effect Weight Type | NR |
| PGS Source | |
| PGS Catalog Publication (PGP) ID | PGP000050 |
| Citation (link to publication) | Graff RE et al. Nat Commun (2021) |
| Ancestry Distribution | |
| Source of Variant Associations (GWAS) | European: 66.4% Not Reported: 33.6% 43,054 individuals (100%) |
| PGS Evaluation | European: 100% 3 Sample Sets |
| Study Identifiers | Sample Numbers | Sample Ancestry | Cohort(s) |
|---|---|---|---|
GWAS Catalog: GCST003436 Europe PMC: 27008869 |
16,852 individuals | European | NR |
GWAS Catalog: GCST003524 Europe PMC: 27135401 |
11,756 individuals | European | NR |
GWAS Catalog: GCST005906 Europe PMC: 29608257 |
14,446 individuals | NR | NR |
|
PGS Performance Metric ID (PPM) |
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 |
|---|---|---|---|---|---|---|---|---|
| PPM000195 | PSS000114| European Ancestry| 221,699 individuals |
PGP000050 | Graff RE et al. Nat Commun (2021) |
Reported Trait: Endometrial cancer | OR: 1.19 [1.14, 1.24] | — | — | Genotyping reagent kit (GERA cohort only), genotyping array (UK Biobank only), age, 10 PCs. | Results from meta-analysis of GERA and UKB |
| PPM002041 | PSS001014| European Ancestry| 212,156 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |Ext. |
Reported Trait: Incident endometrial cancer | HR: 1.19 [1.1, 1.29] | AUROC: 0.755 C-index: 0.749 (0.011) |
— | Age at assessment, family history of cancer, genotyping array, PCs(1-15), parity ( ≥1 live birth vs. none), age at menarche, body mass index, Menopausal status (pre-menopausal vs. post-menopausal vs. unknown or hysterectomy), ever used hormone replacement therapy, oral contraceptive use (never used (0) vs. <20 years vs. ≥20 years), | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
| PPM017170 | PSS010152| European Ancestry| 494 individuals |
PGP000443 | Byrne S et al. Int J Epidemiol (2023) |Ext. |
Reported Trait: Uterine cancer | HR: 1.31 [1.2, 1.44] | — | — | age at baseline, sex (where relevant), assessment centre, 40 principal components of ancestries (PCs), Townsend Index, education, birth location, income, lifestyle index, additional cancer-specific covariates | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS000114 | Cancer diagnoses were obtained from reigstry data in GERA, and ICD-9/10 codes mapped to ICD-O-3 codes in UK Biobank. Cancers for this phenotype were classified using the following SEER site recode(s): 27020 | — | [ ,
0.0 % Male samples |
— | European | — | GERA, UKB | — |
| PSS001014 | Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. | — | [ ,
0.0 % Male samples |
— | European | — | UKB | — |
| PSS010152 | — | — | [ ,
0.0 % Male samples |
— | European | — | UKB | — |