Polygenic Score (PGS) ID: PGS000352

Predicted Trait
Reported Trait High grade serous ovarian cancer
Mapped Trait(s) high grade ovarian serous adenocarcinoma (EFO_1001958)
Released in PGS Catalog: Dec. 8, 2020
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Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name PRS_HGS
Development Method
Name Genome-wide significant variants
Parameters p<5e-8
Variants
Original Genome Build GRCh37
Number of Variants 22
Effect Weight Type log(OR)
PGS Source
PGS Catalog Publication (PGP) ID PGP000117
Citation (link to publication) Barnes DR et al. Genet Med (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
53,978 individuals (100%)
PGS Evaluation
European: 100%
4 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST004480
Europe PMC: 28346442
 53,978 individuals European 95 cohorts
  • AOCS
  • ,BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BOCC
  • ,BOCS
  • ,BRICOH
  • ,BioVU
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,DOVE
  • ,DPMS
  • ,EMBRACE
  • ,EPIC
  • ,FCCC
  • ,FOTS
  • ,FROC&GEOCS
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,GOCS
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HJOCS
  • ,HMOCS
  • ,HOCS
  • ,HOPE
  • ,HUNBOCS
  • ,HUOCS
  • ,HUVH
  • ,HeOCS
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LAC-CCOC
  • ,LUHR
  • ,MALOVA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MEC
  • ,MOCS
  • ,MOF
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NCOCS
  • ,NECC
  • ,NHS
  • ,NJOCS
  • ,NNPIO
  • ,NOCS
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OSUCCG
  • ,OUH
  • ,OVAL-BC
  • ,PICO
  • ,POCS
  • ,SEARCH
  • ,SHMC
  • ,SISTER
  • ,SWE
  • ,SWE-BRCA
  • ,TBOCS
  • ,UBNS
  • ,UC
  • ,UCIOCS
  • ,UCSF
  • ,UDP
  • ,UKFOCR
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCPSOCCI
  • ,WCRI
  • ,WOCS
  • ,kConFab

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
PPM001032 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 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 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 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 —

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
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
 —
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
 —
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
 —