| Predicted Trait | |
| Reported Trait | Prostate cancer |
| Mapped Trait(s) | prostate carcinoma (EFO_0001663) |
| Score Construction | |
| PGS Name | PRS_PrCa |
| Variants | |
| Original Genome Build | GRCh37 |
| Number of Variants | 72 |
| Development Method | |
| Name | GWAS-significant variants |
| Parameters | Risk was normalized to population average (see Methods 2.3). Includes proxy variants |
| PGS Source | |
| PGS Catalog Publication (PGP) ID | PGP000113 |
| Citation (link to publication) | Black MH et al. Prostate (2020) |
| Study Identifiers | Sample Numbers | Sample Ancestry |
|---|---|---|
| GWAS Catalog: GCST002606 EuropePMC: 25217961 |
67,543 individuals | European |
| GWAS Catalog: GCST002606 EuropePMC: 25217961 |
2,080 individuals | Hispanic or Latin American |
| GWAS Catalog: GCST002606 EuropePMC: 25217961 |
6,954 individuals | East Asian |
| GWAS Catalog: GCST002606 EuropePMC: 25217961 |
10,463 individuals | Sub-Saharan African, African American or Afro-Caribbean |
| EuropePMC: 19767752.0 | [
|
European |
| GWAS Catalog: GCST000488 EuropePMC: 19767753 |
3,748 individuals | European |
| GWAS Catalog: GCST000152 EuropePMC: 18264097 |
3,748 individuals | European |
| GWAS Catalog: GCST001942 EuropePMC: 23535732 |
22,548 individuals | European |
| GWAS Catalog: GCST000489 EuropePMC: 19767754 |
37,350 individuals | European |
| GWAS Catalog: GCST000019 EuropePMC: 17401366 |
4,517 individuals | European |
| GWAS Catalog: GCST000153 EuropePMC: 18264098 |
23,226 individuals | European |
| GWAS Catalog: GCST002944 EuropePMC: 26034056 |
3,226 individuals | East Asian |
| GWAS Catalog: GCST002944 EuropePMC: 26034056 |
2,251 individuals | African American or Afro-Caribbean |
| GWAS Catalog: GCST002944 EuropePMC: 26034056 |
3,629 individuals | Hispanic or Latin American |
| GWAS Catalog: GCST002944 EuropePMC: 26034056 |
37,272 individuals | European |
| GWAS Catalog: GCST001148 EuropePMC: 21743467 |
13,560 individuals | European |
| GWAS Catalog: GCST001147 EuropePMC: 21743057 |
7,240 individuals | European |
| GWAS Catalog: GCST000154 EuropePMC: 18264096 |
2,329 individuals | European |
| GWAS Catalog: GCST000017 EuropePMC: 17401363 |
2,329 individuals | European |
|
PGS Performance Metric ID (PPM ID) |
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 |
|---|---|---|---|---|---|---|---|---|
| PPM000988 | 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 | — |
| PPM000985 | 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] | — | — | — |
| PPM000986 | PSS000501 | PGP000113 Black MH et al. (2020) |
Reported Trait: Prostate cancer | — | AUROC: 0.64 | — | Age | — |
| PPM000987 | 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 | — |
|
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. | — | [ ,
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. | — | [ ,
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. | — | [ ,
100.0 % Male samples |
— | European (USA, NR) |
— | AG, JHH | — |