| Predicted Trait | |
| Reported Trait | Breast cancer |
| Mapped Trait(s) | breast carcinoma (EFO_0000305) |
| Score Construction | |
| PGS Name | BC_PRSCS |
| Development Method | |
| Name | PRS-CS |
| Parameters | PRS-CS-auto, 1000G European sample (N = 503) as the external LD reference panel |
| Variants | |
| Original Genome Build | GRCh38 |
| Number of Variants | 1,079,089 |
| Effect Weight Type | NR |
| PGS Source | |
| PGS Catalog Publication (PGP) ID | PGP000102 |
| Citation (link to publication) | Mars N et al. Nat Commun (2020) |
| Ancestry Distribution | |
| Source of Variant Associations (GWAS) | European: 100% 139,274 individuals (100%) |
| PGS Evaluation | European: 100% 2 Sample Sets |
| Study Identifiers | Sample Numbers | Sample Ancestry | Cohort(s) |
|---|---|---|---|
GWAS Catalog: GCST004988 Europe PMC: 29059683 |
139,274 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 |
|---|---|---|---|---|---|---|---|---|
| PPM000903 | PSS000450| European Ancestry| 122,978 individuals |
PGP000102 | Mars N et al. Nat Commun (2020) |
Reported Trait: Breast cancer | OR: 1.8 [1.76, 1.84] | — | — | Age, 10 ancestry PCs, batch | — |
| PPM000902 | PSS000450| European Ancestry| 122,978 individuals |
PGP000102 | Mars N et al. Nat Commun (2020) |
Reported Trait: Breast cancer | HR: 1.71 [1.68, 1.75] | — | — | 10 ancestry PCs, batch, age as time scale | — |
| PPM022574 | PSS012022| European Ancestry| 117,252 individuals |
PGP000727 | Mars N et al. J Clin Oncol (2024) |Ext. |
Reported Trait: Invasive breast cancer (before screening age) | HR: 1.75 [1.66, 1.84] | — | — | birth year, genotyping array, subcohort, and the first 10 principal components of genetic ancestry. | — |
| PPM022575 | PSS012022| European Ancestry| 117,252 individuals |
PGP000727 | Mars N et al. J Clin Oncol (2024) |Ext. |
Reported Trait: In situ breast cancer (before screening age) | HR: 2.39 [1.91, 3.0] | — | — | birth year, genotyping array, subcohort, and the first 10 principal components of genetic ancestry. | — |
| PPM022573 | PSS012022| European Ancestry| 117,252 individuals |
PGP000727 | Mars N et al. J Clin Oncol (2024) |Ext. |
Reported Trait: Any breast cancer (before screening age) | HR: 1.78 [1.69, 1.87] | — | — | birth year, genotyping array, subcohort, and the first 10 principal components of genetic ancestry. | — |
| PPM022576 | PSS012022| European Ancestry| 117,252 individuals |
PGP000727 | Mars N et al. J Clin Oncol (2024) |Ext. |
Reported Trait: Any breast cancer (during screening age) | HR: 1.66 [1.63, 1.7] | — | — | birth year, genotyping array, subcohort, and the first 10 principal components of genetic ancestry. | — |
| PPM022577 | PSS012022| European Ancestry| 117,252 individuals |
PGP000727 | Mars N et al. J Clin Oncol (2024) |Ext. |
Reported Trait: Invasive breast cancer (during screening age) | HR: 1.67 [1.63, 1.71] | — | — | birth year, genotyping array, subcohort, and the first 10 principal components of genetic ancestry. | — |
| PPM022578 | PSS012022| European Ancestry| 117,252 individuals |
PGP000727 | Mars N et al. J Clin Oncol (2024) |Ext. |
Reported Trait: In situ breast cancer (during screening age) | HR: 1.73 [1.61, 1.86] | — | — | birth year, genotyping array, subcohort, and the first 10 principal components of genetic ancestry. | — |
| PPM022579 | PSS012022| European Ancestry| 117,252 individuals |
PGP000727 | Mars N et al. J Clin Oncol (2024) |Ext. |
Reported Trait: Bilateral breast cancer (during screening age) | HR: 2.49 [2.03, 3.05] | — | — | birth year, genotyping array, subcohort, and the first 10 principal components of genetic ancestry. | — |
| PPM022580 | PSS012022| European Ancestry| 117,252 individuals |
PGP000727 | Mars N et al. J Clin Oncol (2024) |Ext. |
Reported Trait: Any breast cancer (after screening age) | HR: 1.63 [1.56, 1.7] | — | — | birth year, genotyping array, subcohort, and the first 10 principal components of genetic ancestry. | — |
| PPM022581 | PSS012022| European Ancestry| 117,252 individuals |
PGP000727 | Mars N et al. J Clin Oncol (2024) |Ext. |
Reported Trait: Invasive breast cancer (after screening age) | HR: 1.64 [1.57, 1.71] | — | — | birth year, genotyping array, subcohort, and the first 10 principal components of genetic ancestry. | — |
| PPM022582 | PSS012022| European Ancestry| 117,252 individuals |
PGP000727 | Mars N et al. J Clin Oncol (2024) |Ext. |
Reported Trait: In situ breast cancer (after screening age) | HR: 1.58 [1.33, 1.87] | — | — | birth year, genotyping array, subcohort, and the first 10 principal components of genetic ancestry. | — |
| PPM022583 | PSS012022| European Ancestry| 117,252 individuals |
PGP000727 | Mars N et al. J Clin Oncol (2024) |Ext. |
Reported Trait: Bilateral breast cancer (after screening age) | HR: 2.75 [1.96, 3.85] | — | — | birth year, genotyping array, subcohort, and the first 10 principal components of genetic ancestry. | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS012022 | — | — | [ ,
0.0 % Male samples |
— | European | — | FinnGen | — |
| PSS000450 | Breast cancer cases were identified through the Finnish Cancer Registry with diagnosis C50 (International Classification of Diseases for Oncology, 3rd Edition; ICD-O-3), from the drug reimbursement registry by selecting individuals with a reimbursement code for breast cancer, and from the death registry with ICD-10 C50. | — | [ ,
0.0 % Male samples |
Mean Age (At The End Of Follow-Up) = 58.5 years IQR = [45.1, 72.2] years |
European (Finnish) |
— | FinnGen | — |