| Publication Information (EuropePMC) | |
| Title | Comprehensive Inherited Risk Estimation for Risk-Based Breast Cancer Screening in Women. |
| PubMed ID | 38422475(Europe PMC) |
| doi | 10.1200/jco.23.00295 |
| Publication Date | Feb. 29, 2024 |
| Journal | J Clin Oncol |
| Author(s) | Mars N, Kerminen S, Tamlander M, Pirinen M, Jakkula E, Aaltonen K, Meretoja T, Heinävaara S, Widén E, Ripatti S, FinnGen. |
| Polygenic Score ID & Name | PGS Publication ID (PGP) | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants |
Ancestry distribution GWAS Dev Eval |
Scoring File (FTP Link) |
|---|---|---|---|---|---|---|
| PGS000335 (BC_PRSCS) |
PGP000102 | Mars N et al. Nat Commun (2020) |
Breast cancer | breast carcinoma | 1,079,089 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000335/ScoringFiles/PGS000335.txt.gz |
|
PGS Performance Metric ID (PPM) |
Evaluated Score |
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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM022574 | PGS000335 (BC_PRSCS) |
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 | PGS000335 (BC_PRSCS) |
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 | PGS000335 (BC_PRSCS) |
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 | PGS000335 (BC_PRSCS) |
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 | PGS000335 (BC_PRSCS) |
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 | PGS000335 (BC_PRSCS) |
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 | PGS000335 (BC_PRSCS) |
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 | PGS000335 (BC_PRSCS) |
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 | PGS000335 (BC_PRSCS) |
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 | PGS000335 (BC_PRSCS) |
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 | PGS000335 (BC_PRSCS) |
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 | — |