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
  • carcinoma of ovary
  • carcinoma of the ovary
  • epithelial ovarian cancer
  • ovarian cancer
  • ovarian carcinoma
  • ovarian epithelial cancer
  • ovary carcinoma
Mapped term(s) 6 mapped terms
  • DOID:4001
  • MONDO:0005140
  • MeSH:D010051
  • NCIT:C4908
  • NCIt:C4908
  • OMIM:167000
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 "ovarian 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 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
PGS000351
(PRS_EOC)
PGP000117 |
Barnes DR et al. Genet Med (2020)
Invasive epithelial ovarian cancer ovarian carcinoma 30
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000351/ScoringFiles/PGS000351.txt.gz
PGS000352
(PRS_HGS)
PGP000117 |
Barnes DR et al. Genet Med (2020)
High grade serous ovarian cancer high grade ovarian serous adenocarcinoma 22
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000352/ScoringFiles/PGS000352.txt.gz
PGS000724
(PRS_Ovary)
PGP000135 |
Jia G et al. JNCI Cancer Spectr (2020)
Epithelial ovarian cancer ovarian carcinoma 31
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000724/ScoringFiles/PGS000724.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
PPM000112 PGS000048
(OCPRS_Overall)
PSS000072|
European Ancestry|
15,252 individuals
PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (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
PPM000113 PGS000048
(OCPRS_Overall)
PSS000073|
European Ancestry|
8,211 individuals
PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (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
PPM000188 PGS000068
(PRS_EOC)
PSS000108|
European Ancestry|
4,095 individuals
PGP000048 |
Yang X et al. J Med Genet (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|
European Ancestry|
4,095 individuals
PGP000048 |
Yang X et al. J Med Genet (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|
European Ancestry|
220,909 individuals
PGP000050 |
Graff RE et al. bioRxiv (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
PPM000489 PGS000158
(cGRS_Ovarian)
PSS000278|
European Ancestry|
7,551 individuals
PGP000075 |
Shi Z et al. Cancer Med (2019)
Reported Trait: Ovarian cancer Odds Ratio (OR; high vs. average risk groups): 1.63 [1.3, 2.06]
PPM000478 PGS000158
(cGRS_Ovarian)
PSS000278|
European Ancestry|
7,551 individuals
PGP000075 |
Shi Z et al. Cancer Med (2019)
Reported Trait: Ovarian cancer Mean realative risk: 1.12 [1.08, 1.16]
Wilcoxon test (case vs. control) p-value: 0.00015
PPM001031 PGS000351
(PRS_EOC)
PSS000528|
European Ancestry|
12,339 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
Reported Trait: Ovarian cancer in BRCA2 carriers HR: 1.42 [1.28, 1.58] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001030 PGS000351
(PRS_EOC)
PSS000524|
European Ancestry|
18,935 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
Reported Trait: Ovarian cancer in BRCA1 carriers HR: 1.31 [1.24, 1.39] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001032 PGS000352
(PRS_HGS)
PSS000524|
European Ancestry|
18,935 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
Reported Trait: Ovarian cancer in BRCA1 carriers HR: 1.32 [1.25, 1.4] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001033 PGS000352
(PRS_HGS)
PSS000528|
European Ancestry|
12,339 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
Reported Trait: Ovarian cancer in BRCA2 carriers HR: 1.43 [1.29, 1.59] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001036 PGS000352
(PRS_HGS)
PSS000530|
European Ancestry|
3,152 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
Reported Trait: Incident ovarian cancer in BRCA1 carriers HR: 1.28 [1.06, 1.55] family history of the appropriate cancer in first- and second-degree relatives
PPM001037 PGS000352
(PRS_HGS)
PSS000532|
European Ancestry|
2,495 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
Reported Trait: Incident ovarian cancer in BRCA2 carriers HR: 1.45 [1.13, 1.86] family history of the appropriate cancer in first- and second-degree relatives
PPM001654 PGS000724
(PRS_Ovary)
PSS000858|
European Ancestry|
400,812 individuals
PGP000135 |
Jia G et al. JNCI Cancer Spectr (2020)
Reported Trait: Incident epithelial ovarian cancer AUROC: 0.568 [0.537, 0.598] Genotyping array

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
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
PSS000530 To assess associationss between the PRS and ovarian cancer risk, eligibility was restricted to women who had not been diagnosed with ovarian cancer and had not had RRSO at the time of baselinne questionnaire completion. Carriers diagnosed with invasive ovarian, fallopian tube, or peritoneal cancer during the follow-up were considered affected.
[
  • 108 cases
  • , 3,044 controls
]
,
0.0 % Male samples
European 61 cohorts
  • BCFR
  • ,BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,IBCCS
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWEBCS
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS000858 Data and diagnoses on site-specific incident cancers were provided by the National Health Service Information Centre for participants from England and Wales (follow-up through March 31, 2016) and by the NHS Central Register Scotland for participants from Scotland (follow-up through October 31, 2015). Cancers were coded by the International Classification of Diseases, Ninth Revision (ICD-9) or the International Classification of Diseases, Tenth Revision (ICD-10). Ovarian cancer=(ICD-9 = 183.0 or ICD-10 = C56; ICD-O: 8441, 8460, 8462, 8380, 8381, 8470, 8471, 8472, 8473, 8480, 8310, 8140, 8260, 8440, 8450, 9000, 8000, and 8010) Median = 5.8 years
[
  • 358 cases
  • , 400,454 controls
]
,
46.5 % Male samples
European 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
PSS000524
[
  • 2,068 cases
  • , 16,867 controls
]
,
0.0 % Male samples
European 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWEBCS
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
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
PSS000528
[
  • 718 cases
  • , 11,621 controls
]
,
0.0 % Male samples
European 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWEBCS
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
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
PSS000532 To assess associationss between the PRS and ovarian cancer risk, eligibility was restricted to women who had not been diagnosed with ovarian cancer and had not had RRSO at the time of baseline questionnaire completion. Carriers diagnosed with invasive ovarian, fallopian tbe, or peritoneal cancer during the follow-up were considered affected.
[
  • 56 cases
  • , 2,439 controls
]
,
0.0 % Male samples
European 61 cohorts
  • BCFR
  • ,BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,IBCCS
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWEBCS
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab