Trait: uterine cancer

Trait Information
Identifier MONDO_0002715
Description Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix. [NCIT: C3552]
Trait category
Cancer
Synonyms 12 synonyms
  • CA - cancer of uterus
  • cancer of the uterus
  • cancer of uterus
  • malignant neoplasm of the uterus
  • malignant neoplasm of uterus
  • malignant tumor of the uterus
  • malignant tumor of uterus
  • malignant uterine neoplasm
  • malignant uterine tumor
  • malignant uterus neoplasm
  • uterine cancer
  • uterus cancer
Mapped term(s) 7 mapped terms
  • COHD:197230
  • DOID:363
  • ICD10:C55
  • ICD9:179
  • MESH:D014594
  • NCIT:C3552
  • SCTID:371973000
Child trait(s) 2 child traits

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:
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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
Note: This table shows all PGS for "uterine cancer" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution PGS Scoring File (FTP Link)
PGS000073
(CC_Cervix)
 PGP000050 |
Graff RE et al. bioRxiv (2020)
|Pre		 Cervical cancer cervical carcinoma 10
-
 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000073/ScoringFiles/PGS000073.txt.gz
PGS000075
(CC_Endo)
 PGP000050 |
Graff RE et al. bioRxiv (2020)
|Pre		 Endometrial cancer endometrial carcinoma 9
-
 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000075/ScoringFiles/PGS000075.txt.gz
PGS000541
(PRSWEB_PHECODE182_GWAS-Catalog-r2019-05-03-X182_P_5e-08_UKB_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Malignant neoplasm of uterus uterine cancer 18
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000541/ScoringFiles/PGS000541.txt.gz
PGS000542
(PRSWEB_PHECODE182_GWAS-Catalog-r2019-05-03-X182_PT_UKB_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Malignant neoplasm of uterus uterine cancer 20
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000542/ScoringFiles/PGS000542.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
PPM000193 PGS000073
(CC_Cervix)
 PSS000112|
European Ancestry|
226,216 individuals
 PGP000050 |
Graff RE et al. bioRxiv (2020)
|Pre		 Reported Trait: Cervical cancer OR: 1.22 [1.19, 1.25] — — Genotyping reagent kit (GERA cohort only), genotyping array (UK Biobank only), age, 10 PCs. Results from meta-analysis of GERA and UKB
PPM000195 PGS000075
(CC_Endo)
 PSS000114|
European Ancestry|
221,699 individuals
 PGP000050 |
Graff RE et al. bioRxiv (2020)
|Pre		 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
PPM001226 PGS000541
(PRSWEB_PHECODE182_GWAS-Catalog-r2019-05-03-X182_P_5e-08_UKB_20200608)
 PSS000571|
European Ancestry|
6,987 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Malignant neoplasm of uterus OR: 1.311 [1.209, 1.422]
β: 0.271 (0.0415)		 AUROC: 0.576 [0.553, 0.6] Nagelkerke's Pseudo-R²: 0.0133
Brier score: 0.082
Odds Ratio (OR, top 1% vs. Rest): 2.12 [1.17, 3.84]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE182_GWAS-Catalog-r2019-05-03-X182_P_5e-08_UKB_20200608
PPM001227 PGS000542
(PRSWEB_PHECODE182_GWAS-Catalog-r2019-05-03-X182_PT_UKB_20200608)
 PSS000571|
European Ancestry|
6,987 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Malignant neoplasm of uterus OR: 1.302 [1.2, 1.413]
β: 0.264 (0.0416)		 AUROC: 0.572 [0.549, 0.596] Nagelkerke's Pseudo-R²: 0.0126
Brier score: 0.082
Odds Ratio (OR, top 1% vs. Rest): 2.6 [1.5, 4.51]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE182_GWAS-Catalog-r2019-05-03-X182_PT_UKB_20200608

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
PSS000112 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): 27010 —
[
  • 6,568 cases
  • , 219,648 controls
]
,
0.0 % Male samples
 — European — GERA, UKB —
PSS000571 PheCode:182; ICD9:179, 182, 182.0, 182.1, 182.8, 233.2; ICD10:C54.0, C54.1, C54.2, C54.3, C54.8, C54.9, C55, D07.0 —
[
  • 634 cases
  • , 6,353 controls
]
 — European — UKB —
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 —