PGS Publication: PGP000113

Publication Information (EuropePMC)
Title Validation of a prostate cancer polygenic risk score.
PubMed ID 33258481(Europe PMC)
doi 10.1002/pros.24058
Publication Date Aug. 17, 2020
Journal Prostate
Author(s) Black MH, Li S, LaDuca H, Lo MT, Chen J, Hoiness R, Gutierrez S, Tippin-Davis B, Lu HM, Gielzak M, Wiley K, Shi Z, Wei J, Zheng SL, Helfand BT, Isaacs W, Xu J.
Released in PGS Catalog: Dec. 8, 2020

Associated Polygenic Score(s)

PGS Developed By This Publication

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000348 PRS_PrCa PGP000113 Black MH et al. Prostate (2020) Prostate cancer prostate carcinoma 72 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000348/ScoringFiles/PGS000348.txt.gz - Check Terms/Licenses

PGS 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 ID)
Evaluated Score PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000987 PGS000348 (PRS_PrCa) PSS000502 PGP000113
Black MH et al. (2020)
Reported Trait: Prostate cancer in men with a family history of prostate cancer OR: 1.9 [1.53, 2.4] Age
PPM000986 PGS000348 (PRS_PrCa) PSS000501 PGP000113
Black MH et al. (2020)
Reported Trait: Prostate cancer AUROC: 0.64 Age
PPM000985 PGS000348 (PRS_PrCa) PSS000501 PGP000113
Black MH et al. (2020)
Reported Trait: Prostate cancer OR: 1.72 [1.59, 1.88] AUROC: 0.64 [0.62, 0.66]
PPM000988 PGS000348 (PRS_PrCa) PSS000503 PGP000113
Black MH et al. (2020)
Reported Trait: Prostate cancer in men with no family history of prostate cancer OR: 1.65 [1.49, 1.84] Age

Evaluated Samples

PGS Sample Set ID
(PSS ID)
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
PSS000501 Cases: Male, self-reported European ancestry, greater or equal to 18 years of age at prostate cancer diagnosis. JHH cases were patients undergoing radical prostatectomy for the treatment of clinically localized PrCa in 2002 to 2015 and were included if disease was organ‐confined and Gleason score ≤6 or ≥8, as determined upon pathological evaluation of the prostatectomy specimen. Only the high‐ and low‐grade PrCa JHH cases were included because they were previously curated to assess the association of RPVs in cancer susceptibility genes with PrCa. JHH controls were included if they self repored with European American ancestry, had a normal digital rectal examination, PSA level less than 4.0 ng/mL and were older than 55 years. AG cases and controls were men referred for multigene panel testing in 2017 to 2019. Among AG cases, 104 patients had Gleason ≥8, and 59 patients had Gleason ≤6, and 230 patients had no pathology information. AG controls were unaffected with prostate cancer at the time of testing. NSGI controls had a minimum of 1 year clincal history available in the EHR and were exlucded if any ICD9/10 diagnosis of cancer was present at any time in the EHR. Men who tested positive for RPVs in any prostate cancer susceptibility gene were exlcuded from further analysis.
[
  • 1,972 cases
  • , 1,919 controls
]
,
100.0 % Male samples
European
(USA, NR)
AG, JHH, NSGHI
PSS000502 Cases: Male, self-reported European ancestry, greater or equal to 18 years of age at prostate cancer diagnosis. JHH cases were patients undergoing radical prostatectomy for the treatment of clinically localized PrCa in 2002 to 2015 and were included if disease was organ‐confined and Gleason score ≤6 or ≥8, as determined upon pathological evaluation of the prostatectomy specimen. Only the high‐ and low‐grade PrCa JHH cases were included because they were previously curated to assess the association of RPVs in cancer susceptibility genes with PrCa. JHH controls were included if they self repored with European American ancestry, had a normal digital rectal examination, PSA level less than 4.0 ng/mL and were older than 55 years. AG cases and controls were men referred for multigene panel testing in 2017 to 2019. Among AG cases, 104 patients had Gleason ≥8, and 59 patients had Gleason ≤6, and 230 patients had no pathology information. AG controls were unaffected with prostate cancer at the time of testing.
[
  • 744 cases
  • , 295 controls
]
,
100.0 % Male samples
European
(USA, NR)
AG, JHH
PSS000503 Cases: Male, self-reported European ancestry, greater or equal to 18 years of age at prostate cancer diagnosis. JHH cases were patients undergoing radical prostatectomy for the treatment of clinically localized PrCa in 2002 to 2015 and were included if disease was organ‐confined and Gleason score ≤6 or ≥8, as determined upon pathological evaluation of the prostatectomy specimen. Only the high‐ and low‐grade PrCa JHH cases were included because they were previously curated to assess the association of RPVs in cancer susceptibility genes with PrCa. JHH controls were included if they self repored with European American ancestry, had a normal digital rectal examination, PSA level less than 4.0 ng/mL and were older than 55 years. AG cases and controls were men referred for multigene panel testing in 2017 to 2019. Among AG cases, 104 patients had Gleason ≥8, and 59 patients had Gleason ≤6, and 230 patients had no pathology information. AG controls were unaffected with prostate cancer at the time of testing.
[
  • 1,133 cases
  • , 1,172 controls
]
,
100.0 % Male samples
European
(USA, NR)
AG, JHH