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 21 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
  • ovary neoplasm
  • ovary neoplasm (disease)
  • ovary tumor
  • tumor of ovary
  • tumor of the ovary
Mapped term(s) 7 mapped terms
  • ICD10:C56
  • ICD9:239.5
  • MSH:D010051
  • NCIT:C4984
  • NCIt:C4984
  • SCTID:123843001
  • UMLS:CN236629
Child trait(s) 3 child traits

Associated Polygenic Score(s)

Note: This table shows all PGS for "ovarian neoplasm" 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
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
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 http://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 http://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 http://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 http://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 http://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 http://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 http://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 http://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 http://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 http://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 http://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 http://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 http://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 http://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 http://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 http://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 http://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 http://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 http://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 http://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 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000564/ScoringFiles/PGS000564.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
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
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
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
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]
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]
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
PPM001030 PGS000351 (PRS_EOC) PSS000524 PGP000117
Barnes DR et al. (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 PGP000117
Barnes DR et al. (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 PGP000117
Barnes DR et al. (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 PGP000117
Barnes DR et al. (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 PGP000117
Barnes DR et al. (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 PGP000117
Barnes DR et al. (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
PPM001231 PGS000546 (PRSWEB_PHECODE184.11_Phelan-ENOC_PRS-CS_UKB_20200608) PSS000572 PGP000118
Fritsche LG et al. (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
PPM001234 PGS000549 (PRSWEB_PHECODE184.11_Phelan-IEOC_P_5e-08_UKB_20200608) PSS000572 PGP000118
Fritsche LG et al. (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
PPM001237 PGS000552 (PRSWEB_PHECODE184.11_Phelan-IEOC_LASSOSUM_UKB_20200608) PSS000572 PGP000118
Fritsche LG et al. (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
PPM001240 PGS000555 (PRSWEB_PHECODE184.11_Phelan-LSASBOC_PT_UKB_20200608) PSS000572 PGP000118
Fritsche LG et al. (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
PPM001243 PGS000558 (PRSWEB_PHECODE184.11_Phelan-OCCC_LASSOSUM_UKB_20200608) PSS000572 PGP000118
Fritsche LG et al. (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
PPM001246 PGS000561 (PRSWEB_PHECODE184.11_Phelan-SIOC_PRS-CS_MGI_20200608) PSS000550 PGP000118
Fritsche LG et al. (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
PPM001249 PGS000564 (PRSWEB_PHECODE184.11_Phelan-SIOC_LASSOSUM_UKB_20200608) PSS000572 PGP000118
Fritsche LG et al. (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
PPM001229 PGS000544 (PRSWEB_PHECODE184.11_GWAS-Catalog-r2019-05-03-X184.11_P_5e-08_UKB_20200608) PSS000572 PGP000118
Fritsche LG et al. (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 PGP000118
Fritsche LG et al. (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
PPM001232 PGS000547 (PRSWEB_PHECODE184.11_Phelan-EPOC_P_5e-08_UKB_20200608) PSS000572 PGP000118
Fritsche LG et al. (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 PGP000118
Fritsche LG et al. (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
PPM001235 PGS000550 (PRSWEB_PHECODE184.11_Phelan-IEOC_PRS-CS_UKB_20200608) PSS000572 PGP000118
Fritsche LG et al. (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 PGP000118
Fritsche LG et al. (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
PPM001238 PGS000553 (PRSWEB_PHECODE184.11_Phelan-LSASBOC_P_5e-08_UKB_20200608) PSS000572 PGP000118
Fritsche LG et al. (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 PGP000118
Fritsche LG et al. (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
PPM001241 PGS000556 (PRSWEB_PHECODE184.11_Phelan-LSASBOC_LASSOSUM_UKB_20200608) PSS000572 PGP000118
Fritsche LG et al. (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 PGP000118
Fritsche LG et al. (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
PPM001244 PGS000559 (PRSWEB_PHECODE184.11_Phelan-SIOC_P_5e-08_MGI_20200608) PSS000550 PGP000118
Fritsche LG et al. (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 PGP000118
Fritsche LG et al. (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
PPM001247 PGS000562 (PRSWEB_PHECODE184.11_Phelan-SIOC_PRS-CS_UKB_20200608) PSS000572 PGP000118
Fritsche LG et al. (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 PGP000118
Fritsche LG et al. (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

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
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
  • ,DFCI
  • ,DKFZ
  • ,Demokritos
  • ,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
  • ,UCSANFRAN
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
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
PSS000572 PheCode:184.11; ICD9:183.0; ICD10:C56
[
  • 473 cases
  • , 4,723 controls
]
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
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
  • ,DFCI
  • ,DKFZ
  • ,Demokritos
  • ,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
  • ,UCSANFRAN
  • ,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
  • ,DFCI
  • ,DKFZ
  • ,Demokritos
  • ,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
  • ,UCSANFRAN
  • ,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
  • ,DFCI
  • ,DKFZ
  • ,Demokritos
  • ,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
  • ,UCSANFRAN
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab