| Publication Information (EuropePMC) | |
| Title | Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer. |
| PubMed ID | 41266372(Europe PMC) |
| doi | 10.1038/s41525-025-00529-w |
| Publication Date | Nov. 20, 2025 |
| Journal | NPJ Genom Med |
| Author(s) | Barnes DR, Tyrer JP, Dennis J, Leslie G, Bolla MK, Lush M, Aeilts AM, Aittomäki K, Andrieu N, Andrulis IL, Anton-Culver H, Arason A, Arun BK, Balmaña J, Bandera EV, Barkardottir RB, Berger LPV, Berrington de Gonzalez A, Berthet P, Białkowska K, Bjørge L, Blanco AM, Blok MJ, Bobolis KA, Bogdanova NV, Brenton JD, Butz H, Buys SS, Caligo MA, Campbell I, Castillo C, Claes KBM, Colonna SV, Cook LS, Daly MB, Dansonka-Mieszkowska A, de la Hoya M, deFazio A, DePersia A, Ding YC, Doherty JA, Domchek SM, Dörk T, Einbeigi Z, Engel C, Evans DG, Foretova L, Fortner RT, Fostira F, Foti MC, Friedman E, Frone MN, Ganz PA, Gentry-Maharaj A, Glendon G, Godwin AK, González-Neira A, Greene MH, Gronwald J, Guerrieri-Gonzaga A, Hamann U, Hansen TVO, Harris HR, Hauke J, Heitz F, Hogervorst FBL, Hooning MJ, Hopper JL, Huff CD, Huntsman DG, Imyanitov EN, Izatt L, Jakubowska A, James PA, Janavicius R, John EM, Kar S, Karlan BY, Kennedy CJ, Kiemeney LALM, Konstantopoulou I, Kupryjanczyk J, Laitman Y, Lavie O, Lawrenson K, Lester J, Lesueur F, Lopez-Pleguezuelos C, Mai PL, Manoukian S, May T, McNeish IA, Menon U, Milne RL, Modugno F, Mongiovi JM, Montagna M, Moysich KB, Neuhausen SL, Nielsen FC, Noguès C, Oláh E, Olopade OI, Osorio A, Papi L, Pathak H, Pearce CL, Pedersen IS, Peixoto A, Pejovic T, Peng PC, Peshkin BN, Peterlongo P, Powell CB, Prokofyeva D, Pujana MA, Radice P, Rashid MU, Rennert G, Richenberg G, Sandler DP, Sasamoto N, Setiawan VW, Sharma P, Sieh W, Singer CF, Snape K, Sokolenko AP, Soucy P, Southey MC, Stoppa-Lyonnet D, Sutphen R, Sutter C, Tan YY, Teixeira MR, Terry KL, Thomsen LCV, Tischkowitz M, Toland AE, Van Gorp T, Vega A, Velez Edwards DR, Webb PM, Weitzel JN, Wentzensen N, Whittemore AS, Winham SJ, Wu AH, Yadav S, Yu Y, Ziogas A, Berchuck A, Couch FJ, Goode EL, Goodman MT, Monteiro AN, Offit K, Ramus SJ, Risch HA, Schildkraut JM, Thomassen M, Simard J, Easton DF, Jones MR, Chenevix-Trench G, Gayther SA, Antoniou AC, Pharoah PDP. |
| Polygenic Score ID & Name | PGS Publication ID (PGP) | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants |
Ancestry distribution GWAS Dev Eval |
Scoring File (FTP Link) |
|---|---|---|---|---|---|---|
| PGS005086 (PGS64518_OC) |
PGP000680 | Barnes DR et al. NPJ Genom Med (2025) |
Non-mucinous epithelial ovarian cancer | ovarian carcinoma | 64,518 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005086/ScoringFiles/PGS005086.txt.gz | |
| PGS005088 (PGS3448_OC) |
PGP000680 | Barnes DR et al. NPJ Genom Med (2025) |
Non-mucinous epithelial ovarian cancer | ovarian carcinoma | 3,448 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005088/ScoringFiles/PGS005088.txt.gz | |
| PGS005087 (PGS5957_OC) |
PGP000680 | Barnes DR et al. NPJ Genom Med (2025) |
Non-mucinous epithelial ovarian cancer | ovarian carcinoma | 5,957 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005087/ScoringFiles/PGS005087.txt.gz | |
| PGS005089 (PGS400_OC) |
PGP000680 | Barnes DR et al. NPJ Genom Med (2025) |
Non-mucinous epithelial ovarian cancer | ovarian carcinoma | 400 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005089/ScoringFiles/PGS005089.txt.gz |
|
PGS Performance Metric ID (PPM) |
Evaluated Score |
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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM022167 | PGS005087 (PGS5957_OC) |
PSS011826| European Ancestry| 245,377 individuals |
PGP000680 | Barnes DR et al. NPJ Genom Med (2025) |
Reported Trait: Epithelial ovarian cancer | OR: 1.45 | AUROC: 0.603 | — | — | — |
| PPM022168 | PGS005088 (PGS3448_OC) |
PSS011826| European Ancestry| 245,377 individuals |
PGP000680 | Barnes DR et al. NPJ Genom Med (2025) |
Reported Trait: Epithelial ovarian cancer | OR: 1.45 | AUROC: 0.604 | — | — | — |
| PPM022169 | PGS005089 (PGS400_OC) |
PSS011826| European Ancestry| 245,377 individuals |
PGP000680 | Barnes DR et al. NPJ Genom Med (2025) |
Reported Trait: Epithelial ovarian cancer | OR: 1.43 [1.35, 1.52] | AUROC: 0.603 | — | — | — |
| PPM022170 | PGS005086 (PGS64518_OC) |
PSS011825| East Asian Ancestry| 61,457 individuals |
PGP000680 | Barnes DR et al. NPJ Genom Med (2025) |
Reported Trait: Epithelial ovarian cancer | OR: 1.12 [1.05, 1.2] | — | — | — | — |
| PPM022171 | PGS005087 (PGS5957_OC) |
PSS011825| East Asian Ancestry| 61,457 individuals |
PGP000680 | Barnes DR et al. NPJ Genom Med (2025) |
Reported Trait: Epithelial ovarian cancer | OR: 1.14 | — | — | — | — |
| PPM022172 | PGS005088 (PGS3448_OC) |
PSS011825| East Asian Ancestry| 61,457 individuals |
PGP000680 | Barnes DR et al. NPJ Genom Med (2025) |
Reported Trait: Epithelial ovarian cancer | OR: 1.14 | — | — | — | — |
| PPM022173 | PGS005089 (PGS400_OC) |
PSS011825| East Asian Ancestry| 61,457 individuals |
PGP000680 | Barnes DR et al. NPJ Genom Med (2025) |
Reported Trait: Epithelial ovarian cancer | OR: 1.13 | — | — | — | — |
| PPM022166 | PGS005086 (PGS64518_OC) |
PSS011826| European Ancestry| 245,377 individuals |
PGP000680 | Barnes DR et al. NPJ Genom Med (2025) |
Reported Trait: Epithelial ovarian cancer | OR: 1.46 [1.37, 1.54] | AUROC: 0.607 [0.59, 0.623] | — | — | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS011825 | — | — | [ ,
0.0 % Male samples |
— | East Asian (Japanese) |
— | BBJ | — |
| PSS011826 | — | — | [ ,
0.0 % Male samples |
— | European (British) |
— | UKB | — |