Trait: ovarian carcinoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_0001075
Description A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms. --2002 [NCIT: C4908]
Trait category
Cancer
Synonyms 7 synonyms
  • ovary carcinoma
  • ovarian epithelial cancer
  • carcinoma of the ovary
  • ovarian cancer
  • carcinoma of ovary
  • ovarian carcinoma
  • epithelial ovarian cancer
Mapped term(s) 6 mapped terms
  • NCIt:C4908
  • DOID:4001
  • OMIM:167000
  • NCIT:C4908
  • MONDO:0005140
  • MSH:D010051
Child trait(s) ovarian serous carcinoma

Associated Polygenic Score(s)

Note: This table shows all PGS for "ovarian carcinoma" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000048 OCPRS_Overall PGP000033
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
Ovarian cancer ovarian carcinoma 17 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000048/ScoringFiles/PGS000048.txt.gz
PGS000068 PRS_EOC PGP000048
Yang X et al. J Med Genet (2018)
Epithelial ovarian cancer ovarian carcinoma 15 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000068/ScoringFiles/PGS000068.txt.gz
PGS000069 PRS_sEOC PGP000048
Yang X et al. J Med Genet (2018)
Serous epithelial ovarian cancer ovarian serous carcinoma 15 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000069/ScoringFiles/PGS000069.txt.gz
PGS000082 CC_Ovary PGP000050
Graff RE et al. bioRxiv (2020)
Pre
Ovarian cancer ovarian carcinoma 36 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000082/ScoringFiles/PGS000082.txt.gz
PGS000158 cGRS_Ovarian PGP000075
Shi Z et al. Cancer Med (2019)
Ovarian cancer ovarian carcinoma 11 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000158/ScoringFiles/PGS000158.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
PPM000113 PGS000048 (OCPRS_Overall) PSS000073 PGP000033
Kuchenbaecker KB et al. (2017)
Reported Trait: Ovarian cancer in BRCA2 mutation carriers HR: 1.49[1.34, 1.65] C-index: 0.628[0.592, 0.665] Country, birth year
PPM000112 PGS000048 (OCPRS_Overall) PSS000072 PGP000033
Kuchenbaecker KB et al. (2017)
Reported Trait: Ovarian cancer in BRCA1 mutation carriers HR: 1.28[1.22, 1.34] C-index: 0.579[0.559, 0.6] Country, birth year
PPM000188 PGS000068 (PRS_EOC) PSS000108 PGP000048
Yang X et al. (2018)
Reported Trait: all invasive epithelial ovarian cancer OR: 1.32[1.21, 1.45] C-index: 0.58[0.55, 0.6]
PPM000189 PGS000069 (PRS_sEOC) PSS000108 PGP000048
Yang X et al. (2018)
Reported Trait: serous epithelial ovarian cancer OR: 1.43[1.29, 1.58] C-index: 0.6[0.57, 0.63]
PPM000202 PGS000082 (CC_Ovary) PSS000121 PGP000050
Graff RE et al. (2020)
Pre
Reported Trait: Ovarian cancer OR: 1.14[1.08, 1.2] Genotyping reagent kit (GERA cohort only), genotyping array (UK Biobank only), age, 10 PCs. Results from meta-analysis of GERA and UKB
PPM000478 PGS000158 (cGRS_Ovarian) PSS000278 PGP000075
Shi Z et al. (2019)
Reported Trait: Ovarian cancer Mean realative risk: 1.12[1.08, 1.16]
Wilcoxon test (case vs. control) p-value: 0.00015
PPM000489 PGS000158 (cGRS_Ovarian) PSS000278 PGP000075
Shi Z et al. (2019)
Reported Trait: Ovarian cancer Odds Ratio (OR; high vs. average risk groups): 1.63[1.3, 2.06]

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
PSS000121 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): 27040
[
  • 1,261 cases
  • , 219,648 controls
]
,
0.0 % Male samples
European GERA, UKB
PSS000108 Adjudicated endpoint determined from medical notes by an outcome review committee Mean = 11.1 years
Iqr = [10.0, 12.0] years
[
  • 750 cases
  • , 1,428 controls
]
,
0.0 % Male samples
Mean = 63.0 years
Range = [50.0, 74.0] years
European UKCTOCS
PSS000108 Adjudicated endpoint determined from medical notes by an outcome review committee Mean = 11.1 years
Iqr = [10.0, 12.0] years
[
  • 489 cases
  • , 1,428 controls
]
,
0.0 % Male samples
Mean = 63.0 years
Range = [50.0, 74.0] years
European UKCTOCS
PSS000072 BRCA1 mutation carriers were followed until the age of ovarian cancer diagnosis, age at risk-reducing salpingo-oophorectomy (RRSO) or age at last observation. Breast cancer diagnosis was not considered as a censoring event in the ovarian cancer analysis
[
  • 2,462 cases
  • , 12,790 controls
]
,
0.0 % Male samples
European Some analyses accounted for samples part of the larger cohort with Ashkenazi Jewish ancestry CIMBA Median censoring age (cases) = 50
PSS000073 BRCA2 mutation carriers were followed until the age of ovarian cancer diagnosis, age at risk-reducing salpingo-oophorectomy (RRSO) or age at last observation. Breast cancer diagnosis was not considered as a censoring event in the ovarian cancer analysis
[
  • 631 cases
  • , 7,580 controls
]
,
0.0 % Male samples
European Some analyses accounted for samples part of the larger cohort with Ashkenazi Jewish ancestry CIMBA Median censoring age (cases) = 57
PSS000278 Primary tumor samples from TCGA
[
  • 531 cases
  • , 0 controls
]
,
0.0 % Male samples
Mean = 60.0 years
Sd = 12.0 years
European TCGA
PSS000278
[
  • 0 cases
  • , 7,020 controls
]
,
0.0 % Male samples
European eMERGE