Trait: cervical cancer

Trait Information
Identifier MONDO_0002974
Description A primary or metastatic malignant neoplasm involving the cervix. [NCIT: C9311]
Trait category
Other trait
Synonyms 37 synonyms
  • cancer of uterine cervix
  • cervical cancer, somatic
  • cervical neoplasm
  • malignant cervical neoplasm
  • malignant cervical tumor
  • malignant cervical tumour
  • malignant cervix neoplasm
  • malignant cervix tumor
  • malignant cervix tumour
  • malignant cervix uteri neoplasm
  • malignant cervix uteri tumor
  • malignant cervix uteri tumour
  • malignant neoplasm of cervix
  • malignant neoplasm of cervix uteri
  • malignant neoplasm of the cervix
  • malignant neoplasm of the cervix uteri
  • malignant neoplasm of the uterine cervix
  • malignant neoplasm of uterine cervix
  • malignant tumor of cervix
  • malignant tumor of cervix uteri
  • malignant tumor of the cervix
  • malignant tumor of the cervix uteri
  • malignant tumor of the uterine cervix
  • malignant tumor of uterine cervix
  • malignant tumour of cervix
  • malignant tumour of cervix uteri
  • malignant tumour of the cervix
  • malignant tumour of the cervix uteri
  • malignant tumour of the uterine cervix
  • malignant tumour of uterine cervix
  • malignant uterine cervix neoplasm
  • malignant uterine cervix tumor
  • malignant uterine cervix tumour
  • tumor of the cervix uteri
  • tumour of the cervix uteri
  • uterine cervical neoplasm
  • uterine cervix cancer
Child trait(s) cervical carcinoma

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 "cervical 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
GWAS
Dev
Eval
 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
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
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
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
PGS005165
(PRS-CC)
 PGP000711 |
Zhu M et al. PLoS Med (2025)
 Cervical cancer cervical carcinoma 15
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005165/ScoringFiles/PGS005165.txt.gz
PGS018540
(TPMI_180_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cervical cancer and dysplasia cervical cancer 32
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018540/ScoringFiles/PGS018540.txt.gz
PGS018541
(TPMI_180_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cervical cancer and dysplasia cervical cancer 939,805
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018541/ScoringFiles/PGS018541.txt.gz
PGS018542
(TPMI_180_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cervical cancer and dysplasia cervical cancer 16,145
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018542/ScoringFiles/PGS018542.txt.gz
PGS018543
(TPMI_180_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cervical cancer and dysplasia cervical cancer 983,767
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018543/ScoringFiles/PGS018543.txt.gz
PGS018544
(TPMI_180_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cervical cancer and dysplasia cervical cancer 992,634
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018544/ScoringFiles/PGS018544.txt.gz
PGS018545
(TPMI_180.1_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cervical cancer cervical cancer 1,050
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018545/ScoringFiles/PGS018545.txt.gz
PGS018546
(TPMI_180.1_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cervical cancer cervical cancer 280,778
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018546/ScoringFiles/PGS018546.txt.gz
PGS018547
(TPMI_180.1_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cervical cancer cervical cancer 540,580
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018547/ScoringFiles/PGS018547.txt.gz
PGS018548
(TPMI_180.1_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cervical cancer cervical cancer 983,768
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018548/ScoringFiles/PGS018548.txt.gz
PGS018549
(TPMI_180.1_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cervical cancer cervical cancer 1,011,318
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018549/ScoringFiles/PGS018549.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.
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.
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
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 —
PPM022403 PGS005165
(PRS-CC)
 PSS011943|
East Asian Ancestry|
57,359 individuals
 PGP000711 |
Zhu M et al. PLoS Med (2025)
 Reported Trait: Cervical Cancer HR: 1.2 [1.06, 1.36]
β: 0.182		 C-index: 0.566 — Age,Sex (if applicable),Region,Top 10 genetic ancestry principal components The HR and C-index values were derived from Cox proportional hazards regression models.
PPM036722 PGS018540
(TPMI_180_Lassosum2)
 PSS012453|
East Asian Ancestry|
8,290 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cervical cancer and dysplasia — AUROC: 0.71423 R²: 0.10406 sex, age, array, PCs 1-10 —
PPM036723 PGS018541
(TPMI_180_LDpred2)
 PSS012452|
East Asian Ancestry|
8,290 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cervical cancer and dysplasia — AUROC: 0.71373 R²: 0.10361 sex, age, array, PCs 1-10 —
PPM036724 PGS018542
(TPMI_180_MegaPRS)
 PSS012454|
East Asian Ancestry|
8,290 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cervical cancer and dysplasia — AUROC: 0.71362 R²: 0.10344 sex, age, array, PCs 1-10 —
PPM036725 PGS018543
(TPMI_180_PRS-CS)
 PSS012455|
East Asian Ancestry|
8,290 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cervical cancer and dysplasia — AUROC: 0.7135 R²: 0.10346 sex, age, array, PCs 1-10 —
PPM036726 PGS018544
(TPMI_180_SBayesR)
 PSS012456|
East Asian Ancestry|
8,290 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cervical cancer and dysplasia — AUROC: 0.71409 R²: 0.10359 sex, age, array, PCs 1-10 —
PPM036727 PGS018545
(TPMI_180.1_Lassosum2)
 PSS012443|
East Asian Ancestry|
8,044 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cervical cancer — AUROC: 0.67978 R²: 0.02097 sex, age, array, PCs 1-10 —
PPM036728 PGS018546
(TPMI_180.1_LDpred2)
 PSS012442|
East Asian Ancestry|
8,044 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cervical cancer — AUROC: 0.67992 R²: 0.02138 sex, age, array, PCs 1-10 —
PPM036729 PGS018547
(TPMI_180.1_MegaPRS)
 PSS012444|
East Asian Ancestry|
8,044 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cervical cancer — AUROC: 0.67784 R²: 0.02043 sex, age, array, PCs 1-10 —
PPM036730 PGS018548
(TPMI_180.1_PRS-CS)
 PSS012445|
East Asian Ancestry|
8,044 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cervical cancer — AUROC: 0.68 R²: 0.02133 sex, age, array, PCs 1-10 —
PPM036731 PGS018549
(TPMI_180.1_SBayesR)
 PSS012446|
East Asian Ancestry|
8,044 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cervical cancer — AUROC: 0.68346 R²: 0.02179 sex, age, array, PCs 1-10 —

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
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 —
PSS007635 — —
[
  • 561 cases
  • , 66,864 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS012442 180.0, 180.1, 180.8, 180.9, V10.41,C53 —
[
  • 158 cases
  • , 7,886 controls
]
,
0.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012443 180.0, 180.1, 180.8, 180.9, V10.41,C53 —
[
  • 158 cases
  • , 7,886 controls
]
,
0.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012444 180.0, 180.1, 180.8, 180.9, V10.41,C53 —
[
  • 158 cases
  • , 7,886 controls
]
,
0.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012445 180.0, 180.1, 180.8, 180.9, V10.41,C53 —
[
  • 158 cases
  • , 7,886 controls
]
,
0.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012446 180.0, 180.1, 180.8, 180.9, V10.41,C53 —
[
  • 158 cases
  • , 7,886 controls
]
,
0.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS011943 ICD-10: C53 Median = 11.33 years
Range = [10.18, 12.26] years
[
  • 237 cases
  • , 57,122 controls
]
,
0.0 % Male samples
 Mean = 53.69 years
Sd = 11.01 years		 East Asian
(Chinese)		 — CKB —
PSS012453 180, 233.1, 622.1, V10.41,C53, D06, N87 —
[
  • 404 cases
  • , 7,886 controls
]
,
0.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012452 180, 233.1, 622.1, V10.41,C53, D06, N87 —
[
  • 404 cases
  • , 7,886 controls
]
,
0.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012454 180, 233.1, 622.1, V10.41,C53, D06, N87 —
[
  • 404 cases
  • , 7,886 controls
]
,
0.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012455 180, 233.1, 622.1, V10.41,C53, D06, N87 —
[
  • 404 cases
  • , 7,886 controls
]
,
0.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012456 180, 233.1, 622.1, V10.41,C53, D06, N87 —
[
  • 404 cases
  • , 7,886 controls
]
,
0.0 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS010125 C53, D06 —
[
  • 235 cases
  • , 127,878 controls
]
,
0.0 % Male samples
 — European — EB —
PSS010075 C53 —
[
  • 1,482 cases
  • , 142,892 controls
]
 — European
(British)		 — UKB Controls were samples without any cancer diagnosis or self-reported cancer
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 —
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 —