Polygenic Score (PGS) ID: PGS000048

Predicted Trait
Reported Trait Ovarian cancer
Mapped Trait(s) ovarian carcinoma (EFO_0001075)
Released in PGS Catalog: Dec. 18, 2019
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Score Details

Score Construction
PGS Name OCPRS_Overall
Development Method
Name Known susceptibility loci (genome-wide significant SNPs)
Parameters Most strongly associated variant from each asociated region (p<5x10-8)
Variants
Original Genome Build GRCh37
Number of Variants 17
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000033
Citation (link to publication) Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
13,491 individuals (100%)
PGS Evaluation
European: 100%
2 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST002748
Europe PMC: 25581431
 13,491 individuals European NR

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
PPM000112 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 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 —

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
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