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
Cancer
Synonyms 8 synonyms
  • carcinoma of endometrium
  • carcinoma of the endometrium
  • carcinoma, endometrial, malignant
  • endometrial cancer
  • endometrial cancer
  • endometrial carcinoma
  • endometrial carcinoma (disease)
  • endometrium carcinoma
Mapped terms 9 mapped terms
  • DOID:2871
  • HP:0012114
  • MEDGEN:96903
  • MONDO:0002447
  • NCIT:C7558
  • ONCOTREE:UCEC
  • SCTID:254878006
  • UMLS:C0476089
  • icd11.foundation:1123821211

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
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)
PGS000075
(CC_Endo)
 PGP000050 |
Graff RE et al. Nat Commun (2021)
 Endometrial cancer endometrial carcinoma 9
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000075/ScoringFiles/PGS000075.txt.gz
PGS000786
(CC_Endo_IV)
 PGP000186 |
Kachuri L et al. Nat Commun (2020)
 Endometrial cancer endometrial carcinoma 9
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000786/ScoringFiles/PGS000786.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
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
PGS003381
(best_UCEC)
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Uterine endometrial carcinoma endometrial carcinoma 529,365
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003381/ScoringFiles/PGS003381.txt.gz
PGS004244
(PRS16_endometrium)
 PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
 Endometrial cancer endometrial carcinoma 16
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004244/ScoringFiles/PGS004244.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
PPM000195 PGS000075
(CC_Endo)
 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 PGS000075
(CC_Endo)
 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 PGS000075
(CC_Endo)
 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 —
PPM002057 PGS000786
(CC_Endo_IV)
 PSS001014|
European Ancestry|
212,156 individuals
 PGP000186 |
Kachuri L et al. Nat Commun (2020)
 Reported Trait: Incident endometrial cancer HR: 1.18 [1.09, 1.27] AUROC: 0.754
C-index: 0.749 (0.011)		 R²: 0.486 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.
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] — —
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 —
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] — —
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 —
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] — —
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 —
PPM016256 PGS003381
(best_UCEC)
 PSS010086|
European Ancestry|
144,479 individuals
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Reported Trait: uterine endometrial carcinoma — AUROC: 0.761 R²: 0.11 age, top 20 genetic principal components —
PPM020301 PGS004244
(PRS16_endometrium)
 PSS011328|
European Ancestry|
133,830 individuals
 PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
 Reported Trait: Endometrial cancer HR: 1.25 [1.14, 1.36] — — first 10 genetic principal components —

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
PSS011328 — — 133,830 individuals,
0.0 % Male samples
 — European
(British)		 — UKB —
PSS001014 Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. —
[
  • 643 cases
  • , 211,513 controls
]
,
0.0 % Male samples
 — European — UKB —
PSS010086 C54 —
[
  • 1,587 cases
  • , 142,892 controls
]
 — European
(British)		 — UKB Controls were samples without any cancer diagnosis or self-reported cancer
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 —
PSS010152 — —
[
  • 35 cases
  • , 459 controls
]
,
0.0 % Male samples
 — European — UKB —