Trait: cervical carcinoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_0001061
Description A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma. [NCIT: C9039]
Trait category
Cancer
Synonyms 26 synonyms
  • Carcinoma of Cervix Uteri
  • Carcinoma of Uterine Cervix
  • Carcinoma of cervix
  • Carcinoma of the Cervix
  • Carcinoma of the Uterine Cervix
  • Cervix Carcinoma
  • Cervix Uteri Carcinoma
  • Uterine Cervix Carcinoma
  • cancer of cervix
  • cancer of the cervix
  • cancer of the uterine cervix
  • cancer of uterine cervix
  • carcinoma cervix uteri
  • carcinoma of cervix
  • carcinoma of cervix (disorder)
  • carcinoma of cervix uteri
  • carcinoma of the Cervix Uteri
  • carcinoma of the cervix
  • carcinoma of the cervix uteri
  • carcinoma of the uterine cervix
  • carcinoma of uterine cervix
  • cervical carcinoma
  • cervical carcinoma (uterus)
  • cervix carcinoma
  • cervix uteri carcinoma
  • uterine cervix carcinoma
Mapped term(s) 11 mapped terms
  • DOID:2893
  • DOID:4362
  • ICD10:C53
  • ICD10:D06
  • MONDO:0005131
  • NCIT:C9039
  • NCIt:C9039
  • OMIM:603956
  • SCTID:285432005
  • SNOMEDCT:285432005
  • UMLS:C0302592

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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Additional Diverse Ancestries
Not Reported
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

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

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