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(Variants and weights)

Polygenic Score (PGS) ID: PGS000048

Predicted Trait

Reported Trait: Ovarian cancer
Mapped Trait(s) (Experimental Factor Ontology (EFO) IDs): ovarian carcinoma

Score Details

Name: OCPRS_Overall

Original Genome Build: GRCh37
Number of Variants: 17

PGS Development Method: Known susceptibility loci (genome-wide significant SNPs)
PGS Development Details/Relevant Parameters: Most strongly associated variant from each asociated region (p<5x10-8)

Citation: Kuchenbaecker KB et al. J Natl Cancer Inst (2017) | PGS Catalog Publication ID: PGP000033

Contributing Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
GWAS Catalog: GCST002748
PubMed: 25581431
13,491 individuals European

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 (PPM) ID PGS Catalog Sample Set (PSS) ID Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in PGS Model PGS Performance: Other Relevant Information
PPM000112 PSS000072 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 PSS000073 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

Evaluated Samples

PGS Catalog Sample Set (PSS) ID Detailed Phenotype Description (e.g. ICD/SNOMED codes used to identify cases) Sample Numbers 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 15,252 individuals
[ 2,462 cases, 12,790 controls]
0.00 %% 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 8,211 individuals
[ 631 cases, 7,580 controls]
0.00 %% Male samples
European Some analyses accounted for samples part of the larger cohort with Ashkenazi Jewish ancestry CIMBA Median censoring age (cases) = 57