| Publication Information (EuropePMC) | |
| Title | Generalizability of PGS<sub>313</sub> for breast cancer risk in a Los Angeles biobank. |
| PubMed ID | 38704641(Europe PMC) |
| doi | 10.1016/j.xhgg.2024.100302 |
| Publication Date | May 3, 2024 |
| Journal | HGG Adv |
| Author(s) | Shang H, Ding Y, Venkateswaran V, Boulier K, Kathuria-Prakash N, Malidarreh PB, Luber JM, Pasaniuc B. |
| 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) |
|---|---|---|---|---|---|---|
| PGS000004 (PRS313_BC) |
PGP000002 | Mavaddat N et al. Am J Hum Genet (2018) |
Breast cancer | breast carcinoma | 313 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000004/ScoringFiles/PGS000004.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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM038140 | PGS000004 (PRS313_BC) |
PSS013834| African Ancestry| 1,156 individuals |
PGP000842 | Shang H et al. HGG Adv (2024) |Ext. |
Reported Trait: Breast cancer | OR: 1.31 [1.05, 1.64] | AUROC: 0.61 [0.56, 0.65] | — | age, PC 1-9 | — |
| PPM038141 | PGS000004 (PRS313_BC) |
PSS013835| European Ancestry| 11,873 individuals |
PGP000842 | Shang H et al. HGG Adv (2024) |Ext. |
Reported Trait: Breast cancer | OR: 1.52 [1.23, 1.72] | AUROC: 0.7 [0.69, 0.71] | — | age, PC 1-9 | — |
| PPM038142 | PGS000004 (PRS313_BC) |
PSS013836| East Asian Ancestry| 2,010 individuals |
PGP000842 | Shang H et al. HGG Adv (2024) |Ext. |
Reported Trait: Breast cancer | OR: 1.46 [1.23, 1.61] | AUROC: 0.64 [0.6, 0.68] | — | age, PC 1-9 | — |
| PPM038143 | PGS000004 (PRS313_BC) |
PSS013837| Hispanic or Latin American Ancestry| 3,303 individuals |
PGP000842 | Shang H et al. HGG Adv (2024) |Ext. |
Reported Trait: Breast cancer | OR: 1.5 [1.31, 1.75] | AUROC: 0.68 [0.65, 0.71] | — | age, PC 1-9 | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS013834 | — | — | [ ,
0.0 % Male samples |
Mean = 55.0 years Sd = 17.0 years |
African American or Afro-Caribbean | — | UCLA | — |
| PSS013835 | — | — | [ ,
0.0 % Male samples |
Mean = 55.0 years Sd = 17.0 years |
European | — | UCLA | — |
| PSS013836 | — | — | [ ,
0.0 % Male samples |
Mean = 52.0 years Sd = 17.0 years |
East Asian | — | UCLA | — |
| PSS013837 | — | — | [ ,
0.0 % Male samples |
Mean = 48.0 years Sd = 17.0 years |
Hispanic or Latin American | — | UCLA | — |