| Predicted Trait | |
| Reported Trait | Breast cancer |
| Mapped Trait(s) | breast carcinoma (EFO_0000305) |
| Score Construction | |
| PGS Name | sPRS161 |
| Variants | |
| Original Genome Build | GRCh37 |
| Number of Variants | 161 |
| Development Method | |
| Name | Genome-wide significant SNPs |
| Parameters | p<5x10−8 |
| PGS Source | |
| PGS Catalog Publication (PGP) ID | PGP000037 |
| Citation (link to publication) | Lakeman IMM et al. J Med Genet (2019) |
| Study Identifiers | Sample Numbers | Sample Ancestry |
|---|---|---|
| GWAS Catalog: GCST004988 EuropePMC: 29059683 |
139,274 individuals | European |
| Detailed Phenotype Description | Participant Follow-up Time | Sample Numbers | Age of Study Participants | Sample Ancestry | Additional Ancestry Description | Cohort(s) | Additional Sample/Cohort Information |
|---|---|---|---|---|---|---|---|
| Incident breast cancer cases, not selected for breast cancer family history enrolled between 1996 and 2006 from the Oorsprong van borstkanker integraal onderzocht (ORIGO) study. 327 healthy genotyped bloodbank donors were included in the ORIGO cohort as controls. | — | [ ,
0.0 % Male samples |
Mean (Cases) = 56.0 years Sd (Cases) = 10.0 years |
European | — | ORIGO | Used to study the mean and standard deviation (SD) of the sPRS |
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) |
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 |
|---|---|---|---|---|---|---|---|---|
| PPM000131 | PSS000082 | PGP000037 Lakeman IMM et al. (2019) |
Reported Trait: breast cancer | HR: 1.16[1.03, 1.28] | — | — | family history (estimated using the BOADICEA risk model) | — |
|
PGS Sample Set ID (PSS ID) |
Detailed Phenotype Description | Participant Follow-up Time | Sample Numbers | Age of Study Participants | Sample Ancestry | Additional Ancestry Description | Cohort(s) | Additional Sample/Cohort Information |
|---|---|---|---|---|---|---|---|---|
| PSS000082 | A family-based cohort including 323 breast cancer cases and 262 unaffected relatives from 101 families. Unaffected relatives derived from 49 out of 101 families. | — | [ ,
0.0 % Male samples |
Mean (Cases) = 51.0 years Sd (Cases) = 11.0 years |
European | — | — |