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 terms 5 mapped terms
  • DOID:363
  • ICD9:179
  • MESH:D014594
  • NCIT:C3552
  • SCTID:371973000
Child trait(s) 5 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:
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
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 Scoring File (FTP Link)
PGS000073
(CC_Cervix)
 PGP000050 |
Graff RE et al. Nat Commun (2021)
 Cervical cancer cervical carcinoma 10
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000073/ScoringFiles/PGS000073.txt.gz
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
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
https://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
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000542/ScoringFiles/PGS000542.txt.gz
PGS000784
(CC_Cervix_IV)
 PGP000186 |
Kachuri L et al. Nat Commun (2020)
 Cervical cancer cervical carcinoma 10
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000784/ScoringFiles/PGS000784.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
PGS001299
(GBE_cancer1041)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Cervical cancer cervical carcinoma 24
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001299/ScoringFiles/PGS001299.txt.gz
PGS001795
(1kgeur_gbmi_leaveUKBBout_UtC_pst_eff_a1_b0.5_phiauto)
 PGP000262 |
Wang Y et al. Cell Genom (2023)
 Uterine cancer uterine carcinoma 911,692
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001795/ScoringFiles/PGS001795.txt.gz
PGS002300
(PRS19_endometrial)
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Endometrial cancer endometrial cancer 19
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002300/ScoringFiles/PGS002300.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
PGS003389
(best_CESC)
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Cervical cancer cervical carcinoma 2,814
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003389/ScoringFiles/PGS003389.txt.gz
PGS003428
(Ldpred_CC_170223)
 PGP000435 |
Koel M et al. Hum Mol Genet (2023)
 Cervical cancer cervical carcinoma 2,894,555
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003428/ScoringFiles/PGS003428.txt.gz
PGS003740
(PRS16_CU)
 PGP000470 |
Xin J et al. EBioMedicine (2023)
 Corpus Uteri uterine corpus cancer 16
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003740/ScoringFiles/PGS003740.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. Nat Commun (2021)
 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
PPM002039 PGS000073
(CC_Cervix)
 PSS001012|
European Ancestry|
211,795 individuals
 PGP000186 |
Kachuri L et al. Nat Commun (2020)
|Ext.		 Reported Trait: Incident cervical cancer HR: 1.22 [1.09, 1.37] AUROC: 0.745
C-index: 0.75 (0.017)		 — Age at assessment, genotyping array, PCs(1-15), parity ( ≥1 live birth vs. none), oral contraceptive use (never used (0) vs. <20 years vs. ≥20 years), cigarette pack-years C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
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 —
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
PPM002055 PGS000784
(CC_Cervix_IV)
 PSS001012|
European Ancestry|
211,795 individuals
 PGP000186 |
Kachuri L et al. Nat Commun (2020)
 Reported Trait: Incident cervical cancer HR: 1.21 [1.07, 1.35] AUROC: 0.745
C-index: 0.749 (0.017)		 R²: 0.437 Age at assessment, genotyping array, PCs(1-15), parity ( ≥1 live birth vs. none), oral contraceptive use (never used (0) vs. <20 years vs. ≥20 years), cigarette pack-years C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
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.
PPM008992 PGS001299
(GBE_cancer1041)
 PSS007631|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Cervical cancer — AUROC: 0.81923 [0.77827, 0.86018] R²: 0.1174
Incremental AUROC (full-covars): -0.00507
PGS R2 (no covariates): 0.00206
PGS AUROC (no covariates): 0.46736 [0.35923, 0.57549]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008993 PGS001299
(GBE_cancer1041)
 PSS007632|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Cervical cancer — AUROC: 0.91431 [0.84118, 0.98744] R²: 0.22017
Incremental AUROC (full-covars): 0.00128
PGS R2 (no covariates): 0.0
PGS AUROC (no covariates): 0.52896 [0.28465, 0.77326]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008994 PGS001299
(GBE_cancer1041)
 PSS007633|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Cervical cancer — AUROC: 0.76761 [0.74661, 0.7886] R²: 0.11284
Incremental AUROC (full-covars): 0.00676
PGS R2 (no covariates): 0.00263
PGS AUROC (no covariates): 0.55215 [0.51478, 0.58952]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008995 PGS001299
(GBE_cancer1041)
 PSS007634|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Cervical cancer — AUROC: 0.83945 [0.77567, 0.90324] R²: 0.13265
Incremental AUROC (full-covars): -0.00075
PGS R2 (no covariates): 0.00058
PGS AUROC (no covariates): 0.46169 [0.30956, 0.61382]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008996 PGS001299
(GBE_cancer1041)
 PSS007635|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Cervical cancer — AUROC: 0.7705 [0.75816, 0.78284] R²: 0.11652
Incremental AUROC (full-covars): 0.00962
PGS R2 (no covariates): 0.00294
PGS AUROC (no covariates): 0.54769 [0.52291, 0.57247]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009299 PGS001795
(1kgeur_gbmi_leaveUKBBout_UtC_pst_eff_a1_b0.5_phiauto)
 PSS007718|
European Ancestry|
170,276 individuals
 PGP000262 |
Wang Y et al. Cell Genom (2023)
 Reported Trait: Uterine cancer — AUROC: 0.66 Nagelkerke's R2 (covariates regressed out): 0.00195 sex,age,age2,age*sex,age^2*sex, 20PCs —
PPM013029 PGS002300
(PRS19_endometrial)
 PSS009660|
European Ancestry|
629 individuals
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Reported Trait: Endometrial cancer — AUROC: 0.64 [0.61, 0.67] — — —
PPM013037 PGS002300
(PRS19_endometrial)
 PSS009660|
European Ancestry|
629 individuals
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Reported Trait: Endometrial cancer — — Hazard ratio (HR top 5% vs average): 1.34 [0.96, 1.88] Age, birth cohort, genotyping array, top 10 PCs for ancestry and sex (for nonsex specific cancer only) —
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 —
PPM016264 PGS003389
(best_CESC)
 PSS010075|
European Ancestry|
144,374 individuals
 PGP000413 |
Namba S et al. Cancer Res (2022)
 Reported Trait: cervical cancer — AUROC: 0.563 R²: 0.00158 age, top 20 genetic principal components —
PPM017102 PGS003428
(Ldpred_CC_170223)
 PSS010125|
European Ancestry|
128,113 individuals
 PGP000435 |
Koel M et al. Hum Mol Genet (2023)
 Reported Trait: Incident cervical cancer HR: 1.33 (0.069) C-index: 0.613 — age, smoking —
PPM018496 PGS003740
(PRS16_CU)
 PSS010989|
European Ancestry|
372 individuals
 PGP000470 |
Xin J et al. EBioMedicine (2023)
 Reported Trait: Corpus Uteri OR: 1.38 [1.2, 1.58] — — — —

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
PSS007635 — —
[
  • 561 cases
  • , 66,864 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS009660 endometrial cancer (ICD-9 = 182 or ICD-10 = C54) — 629 individuals — European — UKB —
PSS010075 C53 —
[
  • 1,482 cases
  • , 142,892 controls
]
 — European
(British)		 — UKB Controls were samples without any cancer diagnosis or self-reported cancer
PSS010989 — — 372 individuals Mean = 64.72 years European — TCGA —
PSS010125 C53, D06 —
[
  • 235 cases
  • , 127,878 controls
]
,
0.0 % Male samples
 — European — EB —
PSS007718 — —
[
  • 1,323 cases
  • , 168,952 controls
]
 — European — UKB —
PSS001012 Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. —
[
  • 282 cases
  • , 211,513 controls
]
,
0.0 % Male samples
 — European — 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 —
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 —
PSS007631 — —
[
  • 28 cases
  • , 6,469 controls
]
 — African unspecified — UKB —
PSS007632 — —
[
  • 6 cases
  • , 1,698 controls
]
 — East Asian — UKB —
PSS007633 — —
[
  • 231 cases
  • , 24,674 controls
]
 — European non-white British ancestry UKB —
PSS007634 — —
[
  • 13 cases
  • , 7,818 controls
]
 — South Asian — UKB —
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 —
PSS009907 — —
[
  • 1,676 cases
  • , 116,960 controls
]
,
0.0 % Male samples
 — European — NR 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 —
PSS010086 C54 —
[
  • 1,587 cases
  • , 142,892 controls
]
 — European
(British)		 — UKB Controls were samples without any cancer diagnosis or self-reported cancer
PSS010152 — —
[
  • 35 cases
  • , 459 controls
]
,
0.0 % Male samples
 — European — UKB —