Trait: uterine carcinoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_0002919
Description A carcinoma involving a uterus. [MONDO: patterns/carcinoma]
Trait category
Cancer
Synonyms 3 synonyms
  • carcinoma of uterus
  • uterine carcinoma
  • uterus carcinoma
Mapped terms 4 mapped terms
  • EFO:0002919
  • MONDO:0005213
  • SCTID:446022000
  • UMLS:C2960452
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:
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 carcinoma" 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
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. medRxiv (2021)
|Pre
Uterine cancer uterine carcinoma 911,692
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001795/ScoringFiles/PGS001795.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

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.
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)
: 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)
: 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] : 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] : 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] : 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] : 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] : 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. medRxiv (2021)
|Pre
Reported Trait: Uterine cancer AUROC: 0.66 Nagelkerke's R2 (covariates regressed out): 0.00195 sex,age,age2,age*sex,age^2*sex, 20PCs
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

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)
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
PSS009907
[
  • 1,676 cases
  • , 116,960 controls
]
,
0.0 % Male samples
European NR 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
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