Trait: ovarian neoplasm

Experimental Factor Ontology (EFO) Information
Identifier EFO_0003893
Description A benign, borderline, or malignant neoplasm involving the ovary. [NCIT: C4984]
Trait category
Cancer
Synonyms 26 synonyms
  • Cancer of Ovary
  • NEOPL OVARIAN
  • Neoplasm, Ovarian
  • Neoplasm, Ovary
  • Neoplasms, Ovarian
  • Neoplasms, Ovary
  • OVARIAN NEOPL
  • OVARY NEOPL
  • Ovarian Neoplasms
  • Ovary Neoplasm
  • Ovary Neoplasms
  • neoplasm of ovary
  • neoplasm of the ovary
  • ovarian neoplasm
  • ovarian tumor
  • ovarian tumors
  • ovarian tumour
  • ovarian tumours
  • ovary neoplasm
  • ovary neoplasm (disease)
  • ovary tumor
  • ovary tumour
  • tumor of ovary
  • tumor of the ovary
  • tumour of ovary
  • tumour of the ovary
Mapped terms 9 mapped terms
  • ICD10:C56
  • ICD9:239.5
  • MONDO:0021068
  • MeSH:D010051
  • MedDRA:10061535
  • NCIT:C4984
  • NCIt:C4984
  • SCTID:123843001
  • UMLS:C0919267
Child trait(s) 3 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 neoplasm" 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 Scoring File (FTP Link)
PGS000048
(OCPRS_Overall)
PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
Ovarian cancer ovarian carcinoma 17
-
https://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
-
https://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
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000069/ScoringFiles/PGS000069.txt.gz
PGS000082
(CC_Ovary)
PGP000050 |
Graff RE et al. Nat Commun (2021)
Ovarian cancer ovarian carcinoma 36
-
https://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
-
https://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
-
https://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
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000352/ScoringFiles/PGS000352.txt.gz
PGS000544
(PRSWEB_PHECODE184.11_GWAS-Catalog-r2019-05-03-X184.11_P_5e-08_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of ovary ovarian neoplasm 21
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000544/ScoringFiles/PGS000544.txt.gz
PGS000545
(PRSWEB_PHECODE184.11_GWAS-Catalog-r2019-05-03-X184.11_PT_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of ovary ovarian neoplasm 21
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000545/ScoringFiles/PGS000545.txt.gz
PGS000546
(PRSWEB_PHECODE184.11_Phelan-ENOC_PRS-CS_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of ovary ovarian neoplasm 1,115,189
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000546/ScoringFiles/PGS000546.txt.gz
PGS000547
(PRSWEB_PHECODE184.11_Phelan-EPOC_P_5e-08_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of ovary ovarian neoplasm 6
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000547/ScoringFiles/PGS000547.txt.gz
PGS000548
(PRSWEB_PHECODE184.11_Phelan-EPOC_LASSOSUM_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of ovary ovarian neoplasm 1,441
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000548/ScoringFiles/PGS000548.txt.gz
PGS000549
(PRSWEB_PHECODE184.11_Phelan-IEOC_P_5e-08_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of ovary ovarian neoplasm 16
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000549/ScoringFiles/PGS000549.txt.gz
PGS000550
(PRSWEB_PHECODE184.11_Phelan-IEOC_PRS-CS_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of ovary ovarian neoplasm 1,115,189
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000550/ScoringFiles/PGS000550.txt.gz
PGS000551
(PRSWEB_PHECODE184.11_Phelan-IEOC_PT_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of ovary ovarian neoplasm 12
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000551/ScoringFiles/PGS000551.txt.gz
PGS000552
(PRSWEB_PHECODE184.11_Phelan-IEOC_LASSOSUM_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of ovary ovarian neoplasm 41,269
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000552/ScoringFiles/PGS000552.txt.gz
PGS000553
(PRSWEB_PHECODE184.11_Phelan-LSASBOC_P_5e-08_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of ovary ovarian neoplasm 10
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000553/ScoringFiles/PGS000553.txt.gz
PGS000554
(PRSWEB_PHECODE184.11_Phelan-LSASBOC_PRS-CS_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of ovary ovarian neoplasm 1,115,189
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000554/ScoringFiles/PGS000554.txt.gz
PGS000555
(PRSWEB_PHECODE184.11_Phelan-LSASBOC_PT_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of ovary ovarian neoplasm 15
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000555/ScoringFiles/PGS000555.txt.gz
PGS000556
(PRSWEB_PHECODE184.11_Phelan-LSASBOC_LASSOSUM_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of ovary ovarian neoplasm 486,841
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000556/ScoringFiles/PGS000556.txt.gz
PGS000557
(PRSWEB_PHECODE184.11_Phelan-OCCC_PRS-CS_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of ovary ovarian neoplasm 1,115,187
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000557/ScoringFiles/PGS000557.txt.gz
PGS000558
(PRSWEB_PHECODE184.11_Phelan-OCCC_LASSOSUM_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of ovary ovarian neoplasm 1,098,236
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000558/ScoringFiles/PGS000558.txt.gz
PGS000559
(PRSWEB_PHECODE184.11_Phelan-SIOC_P_5e-08_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of ovary ovarian neoplasm 21
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000559/ScoringFiles/PGS000559.txt.gz
PGS000560
(PRSWEB_PHECODE184.11_Phelan-SIOC_P_5e-08_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of ovary ovarian neoplasm 21
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000560/ScoringFiles/PGS000560.txt.gz
PGS000561
(PRSWEB_PHECODE184.11_Phelan-SIOC_PRS-CS_MGI_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of ovary ovarian neoplasm 1,114,056
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000561/ScoringFiles/PGS000561.txt.gz
PGS000562
(PRSWEB_PHECODE184.11_Phelan-SIOC_PRS-CS_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of ovary ovarian neoplasm 1,115,189
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000562/ScoringFiles/PGS000562.txt.gz
PGS000563
(PRSWEB_PHECODE184.11_Phelan-SIOC_PT_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of ovary ovarian neoplasm 12
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000563/ScoringFiles/PGS000563.txt.gz
PGS000564
(PRSWEB_PHECODE184.11_Phelan-SIOC_LASSOSUM_UKB_20200608)
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Malignant neoplasm of ovary ovarian neoplasm 110,710
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000564/ScoringFiles/PGS000564.txt.gz
PGS000724
(PRS_Ovary)
PGP000135 |
Jia G et al. JNCI Cancer Spectr (2020)
Epithelial ovarian cancer ovarian carcinoma 31
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000724/ScoringFiles/PGS000724.txt.gz
PGS000793
(CC_Ovary_IV)
PGP000186 |
Kachuri L et al. Nat Commun (2020)
Ovarian cancer ovarian carcinoma 36
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000793/ScoringFiles/PGS000793.txt.gz
PGS002250
(PRS_S4)
PGP000277 |
Dareng EO et al. Eur J Hum Genet (2022)
Epithelial ovarian cancer ovarian carcinoma 27,240
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002250/ScoringFiles/PGS002250.txt.gz
PGS003385
(best_OV)
PGP000413 |
Namba S et al. Cancer Res (2022)
Ovarian serous carcinoma ovarian serous carcinoma 144,810
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003385/ScoringFiles/PGS003385.txt.gz
PGS003394
(PRS_Stepwise)
PGP000277 |
Dareng EO et al. Eur J Hum Genet (2022)
Epithelial ovarian cancer ovarian carcinoma 36
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003394/ScoringFiles/PGS003394.txt.gz
PGS003741
(PRS28_OC)
PGP000470 |
Xin J et al. EBioMedicine (2023)
Ovarian cancer ovarian carcinoma 28
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003741/ScoringFiles/PGS003741.txt.gz
PGS003754
(PRS22_OCstepwise)
PGP000474 |
Hurwitz LM et al. JAMA Netw Open (2023)
Nonmucinous Epithelial Ovarian Cancer ovarian carcinoma 22
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003754/ScoringFiles/PGS003754.txt.gz
PGS004249
(PRS25_ovary)
PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
Ovarian cancer ovarian carcinoma 25
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004249/ScoringFiles/PGS004249.txt.gz
PGS004692
(ovarian_cancer)
PGP000596 |
Hu J et al. JNCI Cancer Spectr (2024)
Ovarian cancer ovarian carcinoma 6,385,666
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004692/ScoringFiles/PGS004692.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. Nat Commun (2021)
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
PPM002048 PGS000082
(CC_Ovary)
PSS001021|
European Ancestry|
211,958 individuals
PGP000186 |
Kachuri L et al. Nat Commun (2020)
|Ext.
Reported Trait: Incident ovarian cancer HR: 1.13 [1.04, 1.24] AUROC: 0.656
C-index: 0.655 (0.015)
Age at assessment, family history of breast cancer, genotyping array, PCs(1-15), parity ( ≥1 live birth vs. none), body mass index, Menopausal status (pre-menopausal vs. post-menopausal vs. unknown or hysterectomy), ever used hormone replacement therapy, oral contraceptive use (never used (0) vs. <20 years vs. ≥20 years), BMI*menopausal status C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM017174 PGS000082
(CC_Ovary)
PSS010149|
European Ancestry|
315 individuals
PGP000443 |
Byrne S et al. Int J Epidemiol (2023)
|Ext.
Reported Trait: Ovarian cancer HR: 1.09 [0.97, 1.21] age at baseline, sex (where relevant), assessment centre, 40 principal components of ancestries (PCs), Townsend Index, education, birth location, income, lifestyle index, additional cancer-specific covariates
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
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
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
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
PPM001229 PGS000544
(PRSWEB_PHECODE184.11_GWAS-Catalog-r2019-05-03-X184.11_P_5e-08_UKB_20200608)
PSS000572|
European Ancestry|
5,196 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of ovary OR: 1.12 [1.021, 1.23]
β: 0.114 (0.0475)
AUROC: 0.532 [0.506, 0.559] Nagelkerke's Pseudo-R²: 0.00239
Brier score: 0.0827
Odds Ratio (OR, top 1% vs. Rest): 0.923 [0.347, 2.45]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE184.11_GWAS-Catalog-r2019-05-03-X184.11_P_5e-08_UKB_20200608
PPM001230 PGS000545
(PRSWEB_PHECODE184.11_GWAS-Catalog-r2019-05-03-X184.11_PT_UKB_20200608)
PSS000572|
European Ancestry|
5,196 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of ovary OR: 1.12 [1.021, 1.23]
β: 0.114 (0.0475)
AUROC: 0.532 [0.506, 0.559] Nagelkerke's Pseudo-R²: 0.00239
Brier score: 0.0827
Odds Ratio (OR, top 1% vs. Rest): 0.923 [0.347, 2.45]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE184.11_GWAS-Catalog-r2019-05-03-X184.11_PT_UKB_20200608
PPM001231 PGS000546
(PRSWEB_PHECODE184.11_Phelan-ENOC_PRS-CS_UKB_20200608)
PSS000572|
European Ancestry|
5,196 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of ovary OR: 1.119 [1.017, 1.231]
β: 0.112 (0.0488)
AUROC: 0.526 [0.498, 0.554] Nagelkerke's Pseudo-R²: 0.00221
Brier score: 0.0827
Odds Ratio (OR, top 1% vs. Rest): 1.97 [0.973, 4.0]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE184.11_Phelan-ENOC_PRS-CS_UKB_20200608
PPM001232 PGS000547
(PRSWEB_PHECODE184.11_Phelan-EPOC_P_5e-08_UKB_20200608)
PSS000572|
European Ancestry|
5,196 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of ovary OR: 1.156 [1.051, 1.27]
β: 0.145 (0.0482)
AUROC: 0.544 [0.517, 0.573] Nagelkerke's Pseudo-R²: 0.00379
Brier score: 0.0826
Odds Ratio (OR, top 1% vs. Rest): 0.922 [0.347, 2.45]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE184.11_Phelan-EPOC_P_5e-08_UKB_20200608
PPM001233 PGS000548
(PRSWEB_PHECODE184.11_Phelan-EPOC_LASSOSUM_UKB_20200608)
PSS000572|
European Ancestry|
5,196 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of ovary OR: 1.132 [1.03, 1.244]
β: 0.124 (0.0483)
AUROC: 0.538 [0.512, 0.565] Nagelkerke's Pseudo-R²: 0.00277
Brier score: 0.0826
Odds Ratio (OR, top 1% vs. Rest): 1.13 [0.463, 2.77]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE184.11_Phelan-EPOC_LASSOSUM_UKB_20200608
PPM001234 PGS000549
(PRSWEB_PHECODE184.11_Phelan-IEOC_P_5e-08_UKB_20200608)
PSS000572|
European Ancestry|
5,196 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of ovary OR: 1.263 [1.15, 1.387]
β: 0.234 (0.0479)
AUROC: 0.567 [0.539, 0.595] Nagelkerke's Pseudo-R²: 0.00996
Brier score: 0.0824
Odds Ratio (OR, top 1% vs. Rest): 1.76 [0.839, 3.69]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE184.11_Phelan-IEOC_P_5e-08_UKB_20200608
PPM001235 PGS000550
(PRSWEB_PHECODE184.11_Phelan-IEOC_PRS-CS_UKB_20200608)
PSS000572|
European Ancestry|
5,196 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of ovary OR: 1.286 [1.169, 1.414]
β: 0.251 (0.0485)
AUROC: 0.568 [0.542, 0.595] Nagelkerke's Pseudo-R²: 0.0113
Brier score: 0.0823
Odds Ratio (OR, top 1% vs. Rest): 1.76 [0.838, 3.7]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE184.11_Phelan-IEOC_PRS-CS_UKB_20200608
PPM001236 PGS000551
(PRSWEB_PHECODE184.11_Phelan-IEOC_PT_UKB_20200608)
PSS000572|
European Ancestry|
5,196 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of ovary OR: 1.234 [1.125, 1.354]
β: 0.21 (0.0473)
AUROC: 0.558 [0.53, 0.586] Nagelkerke's Pseudo-R²: 0.00819
Brier score: 0.0824
Odds Ratio (OR, top 1% vs. Rest): 1.55 [0.71, 3.38]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE184.11_Phelan-IEOC_PT_UKB_20200608
PPM001237 PGS000552
(PRSWEB_PHECODE184.11_Phelan-IEOC_LASSOSUM_UKB_20200608)
PSS000572|
European Ancestry|
5,196 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of ovary OR: 1.19 [1.084, 1.308]
β: 0.174 (0.048)
AUROC: 0.552 [0.523, 0.58] Nagelkerke's Pseudo-R²: 0.00552
Brier score: 0.0825
Odds Ratio (OR, top 1% vs. Rest): 1.97 [0.97, 3.99]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE184.11_Phelan-IEOC_LASSOSUM_UKB_20200608
PPM001238 PGS000553
(PRSWEB_PHECODE184.11_Phelan-LSASBOC_P_5e-08_UKB_20200608)
PSS000572|
European Ancestry|
5,196 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of ovary OR: 1.188 [1.079, 1.308]
β: 0.172 (0.0491)
AUROC: 0.556 [0.53, 0.584] Nagelkerke's Pseudo-R²: 0.00531
Brier score: 0.0825
Odds Ratio (OR, top 1% vs. Rest): 1.76 [0.839, 3.69]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE184.11_Phelan-LSASBOC_P_5e-08_UKB_20200608
PPM001239 PGS000554
(PRSWEB_PHECODE184.11_Phelan-LSASBOC_PRS-CS_UKB_20200608)
PSS000572|
European Ancestry|
5,196 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of ovary OR: 1.11 [1.009, 1.221]
β: 0.104 (0.0486)
AUROC: 0.522 [0.491, 0.548] Nagelkerke's Pseudo-R²: 0.00193
Brier score: 0.0827
Odds Ratio (OR, top 1% vs. Rest): 3.92 [2.27, 6.79]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE184.11_Phelan-LSASBOC_PRS-CS_UKB_20200608
PPM001240 PGS000555
(PRSWEB_PHECODE184.11_Phelan-LSASBOC_PT_UKB_20200608)
PSS000572|
European Ancestry|
5,196 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of ovary OR: 1.133 [1.03, 1.245]
β: 0.125 (0.0483)
AUROC: 0.539 [0.513, 0.568] Nagelkerke's Pseudo-R²: 0.00282
Brier score: 0.0826
Odds Ratio (OR, top 1% vs. Rest): 2.18 [1.11, 4.3]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE184.11_Phelan-LSASBOC_PT_UKB_20200608
PPM001241 PGS000556
(PRSWEB_PHECODE184.11_Phelan-LSASBOC_LASSOSUM_UKB_20200608)
PSS000572|
European Ancestry|
5,196 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of ovary OR: 1.122 [1.022, 1.233]
β: 0.116 (0.0478)
AUROC: 0.516 [0.489, 0.544] Nagelkerke's Pseudo-R²: 0.00242
Brier score: 0.0826
Odds Ratio (OR, top 1% vs. Rest): 2.4 [1.24, 4.62]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE184.11_Phelan-LSASBOC_LASSOSUM_UKB_20200608
PPM001242 PGS000557
(PRSWEB_PHECODE184.11_Phelan-OCCC_PRS-CS_UKB_20200608)
PSS000572|
European Ancestry|
5,196 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of ovary OR: 1.149 [1.045, 1.262]
β: 0.139 (0.048)
AUROC: 0.534 [0.508, 0.562] Nagelkerke's Pseudo-R²: 0.00348
Brier score: 0.0826
Odds Ratio (OR, top 1% vs. Rest): 1.55 [0.71, 3.38]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE184.11_Phelan-OCCC_PRS-CS_UKB_20200608
PPM001243 PGS000558
(PRSWEB_PHECODE184.11_Phelan-OCCC_LASSOSUM_UKB_20200608)
PSS000572|
European Ancestry|
5,196 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of ovary OR: 1.207 [1.102, 1.321]
β: 0.188 (0.0463)
AUROC: 0.546 [0.52, 0.574] Nagelkerke's Pseudo-R²: 0.00676
Brier score: 0.0824
Odds Ratio (OR, top 1% vs. Rest): 1.76 [0.839, 3.69]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE184.11_Phelan-OCCC_LASSOSUM_UKB_20200608
PPM001244 PGS000559
(PRSWEB_PHECODE184.11_Phelan-SIOC_P_5e-08_MGI_20200608)
PSS000550|
European Ancestry|
1,904 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of ovary OR: 1.183 [1.015, 1.378]
β: 0.168 (0.078)
AUROC: 0.554 [0.509, 0.597] Nagelkerke's Pseudo-R²: 0.00516
Brier score: 0.0827
Odds Ratio (OR, top 1% vs. Rest): 0.784 [0.142, 4.32]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE184.11_Phelan-SIOC_P_5e-08_MGI_20200608
PPM001245 PGS000560
(PRSWEB_PHECODE184.11_Phelan-SIOC_P_5e-08_UKB_20200608)
PSS000572|
European Ancestry|
5,196 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of ovary OR: 1.233 [1.125, 1.352]
β: 0.21 (0.047)
AUROC: 0.552 [0.523, 0.581] Nagelkerke's Pseudo-R²: 0.00819
Brier score: 0.0824
Odds Ratio (OR, top 1% vs. Rest): 1.76 [0.839, 3.69]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE184.11_Phelan-SIOC_P_5e-08_UKB_20200608
PPM001246 PGS000561
(PRSWEB_PHECODE184.11_Phelan-SIOC_PRS-CS_MGI_20200608)
PSS000550|
European Ancestry|
1,904 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of ovary OR: 1.185 [1.011, 1.39]
β: 0.17 (0.0812)
AUROC: 0.552 [0.513, 0.598] Nagelkerke's Pseudo-R²: 0.00517
Brier score: 0.0827
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE184.11_Phelan-SIOC_PRS-CS_MGI_20200608
PPM001247 PGS000562
(PRSWEB_PHECODE184.11_Phelan-SIOC_PRS-CS_UKB_20200608)
PSS000572|
European Ancestry|
5,196 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of ovary OR: 1.209 [1.099, 1.329]
β: 0.19 (0.0484)
AUROC: 0.552 [0.526, 0.58] Nagelkerke's Pseudo-R²: 0.00646
Brier score: 0.0825
Odds Ratio (OR, top 1% vs. Rest): 1.55 [0.708, 3.38]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE184.11_Phelan-SIOC_PRS-CS_UKB_20200608
PPM001248 PGS000563
(PRSWEB_PHECODE184.11_Phelan-SIOC_PT_UKB_20200608)
PSS000572|
European Ancestry|
5,196 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of ovary OR: 1.192 [1.086, 1.308]
β: 0.175 (0.0476)
AUROC: 0.547 [0.52, 0.574] Brier score: 0.0826
Nagelkerke's Pseudo-R²: 0.00564
Odds Ratio (OR, top 1% vs. Rest): 0.511 [0.142, 1.84]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE184.11_Phelan-SIOC_PT_UKB_20200608
PPM001249 PGS000564
(PRSWEB_PHECODE184.11_Phelan-SIOC_LASSOSUM_UKB_20200608)
PSS000572|
European Ancestry|
5,196 individuals
PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
Reported Trait: Malignant neoplasm of ovary OR: 1.215 [1.106, 1.336]
β: 0.195 (0.0481)
AUROC: 0.556 [0.529, 0.583] Nagelkerke's Pseudo-R²: 0.00692
Brier score: 0.0825
Odds Ratio (OR, top 1% vs. Rest): 1.76 [0.839, 3.69]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE184.11_Phelan-SIOC_LASSOSUM_UKB_20200608
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
PPM002064 PGS000793
(CC_Ovary_IV)
PSS001021|
European Ancestry|
211,958 individuals
PGP000186 |
Kachuri L et al. Nat Commun (2020)
Reported Trait: Incident ovarian cancer HR: 1.2 [1.1, 1.32] AUROC: 0.66
C-index: 0.654 (0.015)
: 0.193 Age at assessment, family history of breast cancer, genotyping array, PCs(1-15), parity ( ≥1 live birth vs. none), body mass index, Menopausal status (pre-menopausal vs. post-menopausal vs. unknown or hysterectomy), ever used hormone replacement therapy, oral contraceptive use (never used (0) vs. <20 years vs. ≥20 years), BMI*menopausal status C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM016269 PGS002250
(PRS_S4)
PSS010091|
European Ancestry|
198,758 individuals
PGP000277 |
Dareng EO et al. Eur J Hum Genet (2022)
Reported Trait: Epithelial non-mucinous ovarian cancer OR: 1.38 [1.28, 1.48] AUROC: 0.588
PPM016270 PGS002250
(PRS_S4)
PSS010087|
European Ancestry|
18,915 individuals
PGP000277 |
Dareng EO et al. Eur J Hum Genet (2022)
Reported Trait: Epithelial non-mucinous ovarian cancer in BRCA1 carriers HR: 1.36 [1.29, 1.43] AUROC: 0.592
PPM016271 PGS002250
(PRS_S4)
PSS010088|
European Ancestry|
12,337 individuals
PGP000277 |
Dareng EO et al. Eur J Hum Genet (2022)
Reported Trait: Epithelial non-mucinous ovarian cancer in BRCA2 carriers HR: 1.49 [1.35, 1.64] AUROC: 0.624
PPM016272 PGS002250
(PRS_S4)
PSS010090|
East Asian Ancestry|
7,669 individuals
PGP000277 |
Dareng EO et al. Eur J Hum Genet (2022)
Reported Trait: Epithelial non-mucinous ovarian cancer OR: 1.14 [1.08, 1.19] AUROC: 0.538
PPM016273 PGS002250
(PRS_S4)
PSS010089|
African Ancestry|
1,072 individuals
PGP000277 |
Dareng EO et al. Eur J Hum Genet (2022)
Reported Trait: Epithelial non-mucinous ovarian cancer OR: 1.38 [1.21, 1.58] AUROC: 0.593
PPM016260 PGS003385
(best_OV)
PSS010083|
European Ancestry|
143,259 individuals
PGP000413 |
Namba S et al. Cancer Res (2022)
Reported Trait: ovarian serous carcinoma AUROC: 0.717 : 0.0142 age, top 20 genetic principal components
PPM016274 PGS003394
(PRS_Stepwise)
PSS010091|
European Ancestry|
198,758 individuals
PGP000277 |
Dareng EO et al. Eur J Hum Genet (2022)
Reported Trait: Epithelial non-mucinous ovarian cancer OR: 1.39 [1.29, 1.5] AUROC: 0.595
PPM016275 PGS003394
(PRS_Stepwise)
PSS010090|
East Asian Ancestry|
7,669 individuals
PGP000277 |
Dareng EO et al. Eur J Hum Genet (2022)
Reported Trait: Epithelial non-mucinous ovarian cancer OR: 1.17 [1.11, 1.23] AUROC: 0.542
PPM017029 PGS003394
(PRS_Stepwise)
PSS010098|
European Ancestry|
189,171 individuals
PGP000417 |
Dite GS et al. Eur J Cancer Prev (2022)
|Ext.
Reported Trait: 10-year ovarian cancer risks C-index: 0.623 [0.603, 0.642]
PPM016276 PGS003394
(PRS_Stepwise)
PSS010089|
African Ancestry|
1,072 individuals
PGP000277 |
Dareng EO et al. Eur J Hum Genet (2022)
Reported Trait: Epithelial non-mucinous ovarian cancer OR: 1.37 [1.2, 1.56] AUROC: 0.594
PPM018497 PGS003741
(PRS28_OC)
PSS010991|
European Ancestry|
501 individuals
PGP000470 |
Xin J et al. EBioMedicine (2023)
Reported Trait: Ovarian cancer OR: 1.15 [1.04, 1.28]
PPM018518 PGS003754
(PRS22_OCstepwise)
PSS011005|
Multi-ancestry (including European)|
11,135 individuals
PGP000474 |
Hurwitz LM et al. JAMA Netw Open (2023)
Reported Trait: Nonmucinous Epithelial Ovarian Cancer x aspirin use interaction Odds ratio (OR, <median): 0.85 [0.7, 1.02]
Odds ratio (OR, >=median): 0.86 [0.74, 1.01]
PPM020306 PGS004249
(PRS25_ovary)
PSS011328|
European Ancestry|
133,830 individuals
PGP000542 |
Kim ES et al. NPJ Precis Oncol (2023)
Reported Trait: Ovarian cancer HR: 1.16 [1.03, 1.31] first 10 genetic principal components
PPM020877 PGS004692
(ovarian_cancer)
PSS011436|
European Ancestry|
22,025 individuals
PGP000596 |
Hu J et al. JNCI Cancer Spectr (2024)
Reported Trait: Ovarian cancer AUROC: 0.5298

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
PSS011328 133,830 individuals,
0.0 % Male samples
European
(British)
UKB
PSS000572 PheCode:184.11; ICD9:183.0; ICD10:C56
[
  • 473 cases
  • , 4,723 controls
]
European UKB
PSS010991 501 individuals Mean = 60.09 years European TCGA
PSS011436
[
  • 110 cases
  • , 21,915 controls
]
,
0.0 % Male samples
European UKB
PSS011005
[
  • 122 cases
  • , 218 controls
]
African American or Afro-Caribbean
(Black)
OCAC
PSS011005
[
  • 3,995 cases
  • , 5,851 controls
]
European OCAC
PSS011005
[
  • 359 cases
  • , 590 controls
]
Not reported OCAC
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
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
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
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
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
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
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
  • ,SWE-BRCA
  • ,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
PSS010083 C56, histology was one of the followings: Papillary serous cystadenocarcinoma; Serous cystadenocarcinoma; Serous cystadenoma, borderline malignancy; Serous papillary cystic tumor of borderline malignancy; Serous surface papillary carcinoma
[
  • 367 cases
  • , 142,892 controls
]
European
(British)
UKB Controls were samples without any cancer diagnosis or self-reported cancer
PSS010149
[
  • 20 cases
  • , 295 controls
]
,
0.0 % Male samples
European UKB
PSS010087
[
  • 2,053 cases
  • , 16,862 controls
]
,
0.0 % Male samples
European CIMBA
PSS010088
[
  • 717 cases
  • , 11,620 controls
]
,
0.0 % Male samples
European CIMBA
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
PSS010091
[
  • 657 cases
  • , 198,101 controls
]
,
0.0 % Male samples
European UKB
PSS010090
[
  • 2,841 cases
  • , 4,828 controls
]
,
0.0 % Male samples
East Asian OCAC
PSS010089
[
  • 368 cases
  • , 704 controls
]
,
0.0 % Male samples
African unspecified OCAC
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
PSS010098 189,171 individuals,
0.0 % Male samples
European UKB
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
PSS001021 Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases.
[
  • 445 cases
  • , 211,513 controls
]
,
0.0 % Male samples
European UKB
PSS000550 PheCode:184.11; ICD9CM:183.0, V10.43; ICD10CM:C56, C56.1, C56.2, C56.9
[
  • 174 cases
  • , 1,730 controls
]
European MGI