| Publication Information (EuropePMC) | |
| Title | Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk |
| doi | 10.1101/2024.02.29.24303243 |
| Publication Date | March 4, 2024 |
| Journal | medRxiv Preprint |
| 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 LP, 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 KB, GEMO Study Collaborators, EMBRACE Collaborators, Colonna SV, Cook LS, Daly MB, Dansonka-Mieszkowska A, de la Hoya M, deFazio A, DePersia A, Ding YC, 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 Tv, Harris HR, Hauke J, Heitz F, Hogervorst FB, Hooning MJ, Hopper JL, Huff CD, Huntsman DG, Imyanitov EN, kConFab Investigators, Izatt L, Jakubowska A, James PA, Janavicius R, John EM, Kar S, Karlan BY, Kennedy CJ, Kiemeney LA, 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 P, 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, 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 PD. |
| 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) |
|---|---|---|---|---|---|---|
| PGS005087 (PGS5957_OC) |
PGP000680 | Barnes DR et al. medRxiv (2024) |Pre |
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. medRxiv (2024) |Pre |
Non-mucinous epithelial ovarian cancer | ovarian carcinoma | 400 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005089/ScoringFiles/PGS005089.txt.gz | |
| PGS005086 (PGS64518_OC) |
PGP000680 | Barnes DR et al. medRxiv (2024) |Pre |
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. medRxiv (2024) |Pre |
Non-mucinous epithelial ovarian cancer | ovarian carcinoma | 3,448 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005088/ScoringFiles/PGS005088.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. medRxiv (2024) |Pre |
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. medRxiv (2024) |Pre |
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. medRxiv (2024) |Pre |
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. medRxiv (2024) |Pre |
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. medRxiv (2024) |Pre |
Reported Trait: Epithelial ovarian cancer | OR: 1.14 | — | — | — | — |
| PPM022172 | PGS005088 (PGS3448_OC) |
PSS011825| East Asian Ancestry| 61,457 individuals |
PGP000680 | Barnes DR et al. medRxiv (2024) |Pre |
Reported Trait: Epithelial ovarian cancer | OR: 1.14 | — | — | — | — |
| PPM022173 | PGS005089 (PGS400_OC) |
PSS011825| East Asian Ancestry| 61,457 individuals |
PGP000680 | Barnes DR et al. medRxiv (2024) |Pre |
Reported Trait: Epithelial ovarian cancer | OR: 1.13 | — | — | — | — |
| PPM022166 | PGS005086 (PGS64518_OC) |
PSS011826| European Ancestry| 245,377 individuals |
PGP000680 | Barnes DR et al. medRxiv (2024) |Pre |
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 | — |