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)

Note: This table shows all PGS for "uterine cancer" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants 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

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
(PPM ID)
Evaluated Score PGS Sample Set ID
(PSS 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
PPM000193 PGS000073 (CC_Cervix) PSS000112 PGP000050
Graff RE et al. (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 PGP000050
Graff RE et al. (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 PGP000118
Fritsche LG et al. (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 PGP000118
Fritsche LG et al. (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 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
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