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
  • cancer of the uterine cervix
  • carcinoma cervix uteri
  • cancer of uterine cervix
  • cervical carcinoma
  • carcinoma of the uterine cervix
  • Carcinoma of the Uterine Cervix
  • carcinoma of the Cervix Uteri
  • Carcinoma of Cervix Uteri
  • Cervix Uteri Carcinoma
  • carcinoma of the cervix uteri
  • Cervix Carcinoma
  • uterine cervix carcinoma
  • cancer of cervix
  • cervix carcinoma
  • Uterine Cervix Carcinoma
  • carcinoma of uterine cervix
  • carcinoma of cervix uteri
  • cervix uteri carcinoma
  • Carcinoma of cervix
  • carcinoma of the cervix
  • carcinoma of cervix (disorder)
  • cervical carcinoma (uterus)
  • cancer of the cervix
  • Carcinoma of the Cervix
  • Carcinoma of Uterine Cervix
Mapped term(s) 11 mapped terms
  • NCIt:C9039
  • SCTID:285432005
  • UMLS:C0302592
  • DOID:2893
  • ICD10:C53
  • NCIT:C9039
  • MONDO:0005131
  • OMIM:603956
  • DOID:4362
  • SNOMEDCT:285432005
  • ICD10:D06

Associated Polygenic Score(s)

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

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

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