Polygenic Score (PGS) ID: PGS002250

Predicted Trait
Reported Trait Epithelial ovarian cancer
Mapped Trait(s) ovarian carcinoma (EFO_0001075)
Released in PGS Catalog: Jan. 24, 2022
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Score Details

Score Construction
PGS Name PRS_S4
Development Method
Name Select and shrink for summary statistics (S4)
Parameters a = 2.75, b = 2, φ = 3e−6
Variants
Original Genome Build GRCh37
Number of Variants 27,240
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000277
Citation (link to publication) Dareng EO et al. Eur J Hum Genet (2022)
Ancestry Distribution
Score Development/Training
European: 100%
54,990 individuals (100%)
PGS Evaluation
European: 60%
African: 20%
East Asian: 20%
5 Sample Sets

Development Samples

Score Development/Training
Study Identifiers Sample Numbers Sample Ancestry Cohort(s) Phenotype Definitions & Methods Age of Study Participants Participant Follow-up Time Additional Ancestry Description Additional Sample/Cohort Information
GWAS Catalog: GCST004478
Europe PMC: 28346442
 54,990 individuals European OCAC — — — — 5-fold CV

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) 		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
PPM016269 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 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 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 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 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 — — —

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
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 —
PSS010089 — —
[
  • 368 cases
  • , 704 controls
]
,
0.0 % Male samples
 — African unspecified — OCAC —
PSS010090 — —
[
  • 2,841 cases
  • , 4,828 controls
]
,
0.0 % Male samples
 — East Asian — OCAC —
PSS010091 — —
[
  • 657 cases
  • , 198,101 controls
]
,
0.0 % Male samples
 — European — UKB —