Trait: endometrial carcinoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_1001512
Description A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation. [NCIT: C7558]
Trait category
Synonyms 10 synonyms
  • carcinoma of the Endometrium
  • endometrioid carcinoma of female reproductive system
  • carcinoma, endometrial, malignant
  • carcinoma of endometrium
  • endometrial carcinoma (disease)
  • carcinoma of the endometrium
  • endometrial cancer
  • endometrial carcinoma
  • endometrioid carcinoma
  • endometrium carcinoma
Mapped term(s) 8 mapped terms
  • DOID:2871
  • NCIT:C7558
  • SCTID:254878006
  • HP:0012114
  • UMLS:C0476089
  • NCIt:C7558
  • SNOMEDCT:254878006

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000075 CC_Endo PGP000050 Graff RE et al. bioRxiv (2020) Pre Endometrial cancer endometrial carcinoma 9

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 ID
Evaluated Score PGS Sample Set ID
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000195 PGS000075 (CC_Endo) PSS000114 PGP000050
Graff RE et al. (2020)
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

Evaluated Samples

PGS Sample Set ID
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
  • 2,051 cases
  • , 219,648 controls
0.0 % Male samples
European GERA, UKB