Publication Information (EuropePMC) | |
Title | Polygenic hazard score to guide screening for aggressive prostate cancer: development and validation in large scale cohorts. |
PubMed ID | 29321194(Europe PMC) |
doi | 10.1136/bmj.j5757 |
Publication Date | Jan. 10, 2018 |
Journal | BMJ |
Author(s) | Seibert TM, Fan CC, Wang Y, Zuber V, Karunamuni R, Parsons JK, Eeles RA, Easton DF, Kote-Jarai Z, Al Olama AA, Garcia SB, Muir K, Grönberg H, Wiklund F, Aly M, Schleutker J, Sipeky C, Tammela TL, Nordestgaard BG, Nielsen SF, Weischer M, Bisbjerg R, Røder MA, Iversen P, Key TJ, Travis RC, Neal DE, Donovan JL, Hamdy FC, Pharoah P, Pashayan N, Khaw KT, Maier C, Vogel W, Luedeke M, Herkommer K, Kibel AS, Cybulski C, Wokolorczyk D, Kluzniak W, Cannon-Albright L, Brenner H, Cuk K, Saum KU, Park JY, Sellers TA, Slavov C, Kaneva R, Mitev V, Batra J, Clements JA, Spurdle A, Teixeira MR, Paulo P, Maia S, Pandha H, Michael A, Kierzek A, Karow DS, Mills IG, Andreassen OA, Dale AM, PRACTICAL Consortium*. |
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) |
---|---|---|---|---|---|---|
PGS000067 (PCa_PHS) |
PGP000047 | Seibert TM et al. BMJ (2018) |
Prostate cancer | prostate carcinoma | 54 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000067/ScoringFiles/PGS000067.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 |
---|---|---|---|---|---|---|---|---|---|
PPM000182 | PGS000067 (PCa_PHS) |
PSS000105| European Ancestry| 5,456 individuals |
PGP000047 | Seibert TM et al. BMJ (2018) |
Reported Trait: aggressive prostate cancer | — | — | HR (Hazard ratio; top 2% vs. average risk): 2.9 [2.4, 3.4] | — | — |
PPM000184 | PGS000067 (PCa_PHS) |
PSS000106| European Ancestry| 6,411 individuals |
PGP000047 | Seibert TM et al. BMJ (2018) |
Reported Trait: any prostate cancer | — | — | HR (Hazard ratio; top 2% vs. average risk): 2.5 [2.2, 2.8] | — | — |
PPM000186 | PGS000067 (PCa_PHS) |
PSS000107| European Ancestry| 5,048 individuals |
PGP000047 | Seibert TM et al. BMJ (2018) |
Reported Trait: very aggressive prostate cancer | — | — | HR (Hazard ratio; top 2% vs. average risk): 3.0 [2.2, 4.0] | — | — |
PPM000187 | PGS000067 (PCa_PHS) |
PSS000107| European Ancestry| 5,048 individuals |
PGP000047 | Seibert TM et al. BMJ (2018) |
Reported Trait: very aggressive prostate cancer (age at onset) | — | — | z-test (p-value) <: 1.00e-16 | — | — |
PPM000183 | PGS000067 (PCa_PHS) |
PSS000105| European Ancestry| 5,456 individuals |
PGP000047 | Seibert TM et al. BMJ (2018) |
Reported Trait: aggressive prostate cancer (age at onset) | — | — | z-test (p-value) <: 1.00e-16 | — | — |
PPM000185 | PGS000067 (PCa_PHS) |
PSS000106| European Ancestry| 6,411 individuals |
PGP000047 | Seibert TM et al. BMJ (2018) |
Reported Trait: any prostate cancer (age at onset) | — | — | z-test (p-value) <: 1.00e-16 | — | — |
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 |
---|---|---|---|---|---|---|---|---|
PSS000105 | Men screened with PSA testing, who did not receive a diagnosis of prostate cancer. | — | 4,828 individuals, 100.0 % Male samples |
Mean = 59.0 years IQR = [55.0, 63.0] years |
European | — | ProtecT | — |
PSS000105 | Men screened with PSA testing (3.0 ng/L or higher), who received a diagnosis of aggressive prostate cancer (defined as any of Gleason score ≥7, stage T3-T4, PSA concentration ≥10 ng/mL, nodal metastasis, or distant metastasis) | — | [ ,
100.0 % Male samples |
Mean = 64.3 years IQR = [60.2, 67.5] years |
European | — | ProtecT | — |
PSS000106 | Men screened with PSA testing, who did not receive a diagnosis of prostate cancer. | — | 4,828 individuals, 100.0 % Male samples |
Mean = 59.0 years IQR = [55.0, 63.0] years |
European | — | ProtecT | — |
PSS000106 | Men screened with PSA testing (3.0 ng/L or higher), who received a diagnosis of prostate cancer. | — | [ ,
100.0 % Male samples |
Mean = 63.4 years IQR = [59.0, 67.5] years |
European | — | ProtecT | — |
PSS000107 | Men screened with PSA testing, who did not receive a diagnosis of prostate cancer. | — | 4,828 individuals, 100.0 % Male samples |
Mean = 59.0 years IQR = [55.0, 63.0] years |
European | — | ProtecT | — |
PSS000107 | Men screened with PSA testing (3.0 ng/L or higher), who received a diagnosis of very aggressive prostate cancer (defined as any of Gleason score ≥8, stage T3-4, positive nodes, or distant metastases) | — | [ ,
100.0 % Male samples |
— | European | — | ProtecT | — |