PGS Publication: PGP000277

Publication Information (EuropePMC)
Title Polygenic risk modeling for prediction of epithelial ovarian cancer risk.
PubMed ID 35027648(Europe PMC)
doi 10.1038/s41431-021-00987-7
Publication Date Jan. 14, 2022
Journal Eur J Hum Genet
Author(s) Dareng EO, Tyrer JP, Barnes DR, Jones MR, Yang X, Aben KKH, Adank MA, Agata S, Andrulis IL, Anton-Culver H, Antonenkova NN, Aravantinos G, Arun BK, Augustinsson A, Balmaña J, Bandera EV, Barkardottir RB, Barrowdale D, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Bjorge L, Black A, Bogdanova NV, Bonanni B, Borg A, Brenton JD, Budzilowska A, Butzow R, Buys SS, Cai H, Caligo MA, Campbell I, Cannioto R, Cassingham H, Chang-Claude J, Chanock SJ, Chen K, Chiew YE, Chung WK, Claes KBM, Colonna S, GEMO Study Collaborators, GC-HBOC Study Collaborators, EMBRACE Collaborators, Cook LS, Couch FJ, Daly MB, Dao F, Davies E, de la Hoya M, de Putter R, Dennis J, DePersia A, Devilee P, Diez O, Ding YC, Doherty JA, Domchek SM, Dörk T, du Bois A, Dürst M, Eccles DM, Eliassen HA, Engel C, Evans GD, Fasching PA, Flanagan JM, Fortner RT, Machackova E, Friedman E, Ganz PA, Garber J, Gensini F, Giles GG, Glendon G, Godwin AK, Goodman MT, Greene MH, Gronwald J, OPAL Study Group, AOCS Group, Hahnen E, Haiman CA, Håkansson N, Hamann U, Hansen TVO, Harris HR, Hartman M, Heitz F, Hildebrandt MAT, Høgdall E, Høgdall CK, Hopper JL, Huang RY, Huff C, Hulick PJ, Huntsman DG, Imyanitov EN, KConFab Investigators, HEBON Investigators, Isaacs C, Jakubowska A, James PA, Janavicius R, Jensen A, Johannsson OT, John EM, Jones ME, Kang D, Karlan BY, Karnezis A, Kelemen LE, Khusnutdinova E, Kiemeney LA, Kim BG, Kjaer SK, Komenaka I, Kupryjanczyk J, Kurian AW, Kwong A, Lambrechts D, Larson MC, Lazaro C, Le ND, Leslie G, Lester J, Lesueur F, Levine DA, Li L, Li J, Loud JT, Lu KH, Lubiński J, Mai PL, Manoukian S, Marks JR, Matsuno RK, Matsuo K, May T, McGuffog L, McLaughlin JR, McNeish IA, Mebirouk N, Menon U, Miller A, Milne RL, Minlikeeva A, Modugno F, Montagna M, Moysich KB, Munro E, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Nielsen HR, Nielsen FC, Nikitina-Zake L, Odunsi K, Offit K, Olah E, Olbrecht S, Olopade OI, Olson SH, Olsson H, Osorio A, Papi L, Park SK, Parsons MT, Pathak H, Pedersen IS, Peixoto A, Pejovic T, Perez-Segura P, Permuth JB, Peshkin B, Peterlongo P, Piskorz A, Prokofyeva D, Radice P, Rantala J, Riggan MJ, Risch HA, Rodriguez-Antona C, Ross E, Rossing MA, Runnebaum I, Sandler DP, Santamariña M, Soucy P, Schmutzler RK, Setiawan VW, Shan K, Sieh W, Simard J, Singer CF, Sokolenko AP, Song H, Southey MC, Steed H, Stoppa-Lyonnet D, Sutphen R, Swerdlow AJ, Tan YY, Teixeira MR, Teo SH, Terry KL, Terry MB, OCAC Consortium, CIMBA Consortium, Thomassen M, Thompson PJ, Thomsen LCV, Thull DL, Tischkowitz M, Titus L, Toland AE, Torres D, Trabert B, Travis R, Tung N, Tworoger SS, Valen E, van Altena AM, van der Hout AH, Van Nieuwenhuysen E, van Rensburg EJ, Vega A, Edwards DV, Vierkant RA, Wang F, Wappenschmidt B, Webb PM, Weinberg CR, Weitzel JN, Wentzensen N, White E, Whittemore AS, Winham SJ, Wolk A, Woo YL, Wu AH, Yan L, Yannoukakos D, Zavaglia KM, Zheng W, Ziogas A, Zorn KK, Kleibl Z, Easton D, Lawrenson K, DeFazio A, Sellers TA, Ramus SJ, Pearce CL, Monteiro AN, Cunningham J, Goode EL, Schildkraut JM, Berchuck A, Chenevix-Trench G, Gayther SA, Antoniou AC, Pharoah PDP.
Released in PGS Catalog: Jan. 24, 2022

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS002250
(PRS_S4)
PGP000277 |
Dareng EO et al. Eur J Hum Genet (2022)
Epithelial ovarian cancer ovarian carcinoma 27,240
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002250/ScoringFiles/PGS002250.txt.gz

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)
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
PPM012802 PGS002250
(PRS_S4)
PSS009563|
East Asian Ancestry|
7,669 individuals
PGP000277 |
Dareng EO et al. Eur J Hum Genet (2022)
Reported Trait: Epithelial non-mucinous ovarian cancer OR: 1.14 [1.08, 1.19] AUROC: 0.538
PPM012799 PGS002250
(PRS_S4)
PSS009564|
European Ancestry|
198,758 individuals
PGP000277 |
Dareng EO et al. Eur J Hum Genet (2022)
Reported Trait: Epithelial non-mucinous ovarian cancer OR: 1.38 [1.28, 1.48] AUROC: 0.588
PPM012801 PGS002250
(PRS_S4)
PSS009561|
European Ancestry|
12,337 individuals
PGP000277 |
Dareng EO et al. Eur J Hum Genet (2022)
Reported Trait: Epithelial non-mucinous ovarian cancer in BRCA2 carriers HR: 1.49 [1.35, 1.64] AUROC: 0.624
PPM012803 PGS002250
(PRS_S4)
PSS009562|
African Ancestry|
1,072 individuals
PGP000277 |
Dareng EO et al. Eur J Hum Genet (2022)
Reported Trait: Epithelial non-mucinous ovarian cancer OR: 1.38 [1.21, 1.58] AUROC: 0.593
PPM012800 PGS002250
(PRS_S4)
PSS009560|
European Ancestry|
18,915 individuals
PGP000277 |
Dareng EO et al. Eur J Hum Genet (2022)
Reported Trait: Epithelial non-mucinous ovarian cancer in BRCA1 carriers HR: 1.36 [1.29, 1.43] AUROC: 0.592

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
PSS009560
[
  • 2,053 cases
  • , 16,862 controls
]
,
0.0 % Male samples
European CIMBA
PSS009561
[
  • 717 cases
  • , 11,620 controls
]
,
0.0 % Male samples
European CIMBA
PSS009562
[
  • 368 cases
  • , 704 controls
]
,
0.0 % Male samples
African unspecified OCAC
PSS009563
[
  • 2,841 cases
  • , 4,828 controls
]
,
0.0 % Male samples
East Asian OCAC
PSS009564
[
  • 657 cases
  • , 198,101 controls
]
,
0.0 % Male samples
European UKB