Predicted Trait | |
Reported Trait | Prostate cancer |
Mapped Trait(s) | prostate carcinoma (EFO_0001663) |
Score Construction | |
PGS Name | PRS130_Pca |
Development Method | |
Name | Genome-wide significant SNPs |
Parameters | NR |
Variants | |
Original Genome Build | NR |
Number of Variants | 130 |
Effect Weight Type | beta |
PGS Source | |
PGS Catalog Publication (PGP) ID | PGP000726 |
Citation (link to publication) | Benafif S et al. BJU Int (2021) |
Ancestry Distribution | |
Source of Variant Associations (GWAS) | European: 100% 140,254 individuals (100%) |
PGS Evaluation | European: 100% 2 Sample Sets |
Study Identifiers | Sample Numbers | Sample Ancestry | Cohort(s) |
---|---|---|---|
GWAS Catalog: GCST006085 Europe PMC: 29892016 |
140,254 individuals | European | NR |
PGS Performance Metric ID (PPM) |
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 |
---|---|---|---|---|---|---|---|---|
PPM022572 | PSS012021| European Ancestry| 297 individuals |
PGP000726 | Benafif S et al. BJU Int (2021) |
Reported Trait: prostate cancer | — | — | Percentage of screened individuals diagnosed with cancer: 38.9 % | — | Threshold (90th centile) = 11.15 |
PPM022590 | PSS012025| European Ancestry| 6,393 individuals |
PGP000730 | McHugh JK et al. N Engl J Med (2025) |Ext. |
Reported Trait: clinically significant prostate cancer in screened individuals | OR: 1.98 [0.98, 4.03] | AUROC: 0.55 [0.49, 0.61] | Percent of screened particpants diagnosed with cancer: 40.0 % Percent of diagnosed cancers identified as intermediate or high risk: 55.1 % |
— | — |
PPM022591 | PSS012025| European Ancestry| 6,393 individuals |
PGP000730 | McHugh JK et al. N Engl J Med (2025) |Ext. |
Reported Trait: clinically significant prostate cancer in screened individuals | OR: 2.24 [1.08, 4.65] | — | — | Age, Family History, one of (PSA, PIRADS) | — |
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 |
---|---|---|---|---|---|---|---|---|
PSS012025 | "745 (11.7%) had a polygenic risk score in the 90th percentile or higher and were invited to undergo screening." | — | 6,393 individuals, 100.0 % Male samples |
— | European | — | NR | — |
PSS012021 | — | — | 297 individuals, 100.0 % Male samples |
— | European | — | BARCODE1 | — |