| Publication Information (EuropePMC) | |
| Title | Simplified Breast Risk Tool Integrating Questionnaire Risk Factors, Mammographic Density, and Polygenic Risk Score: Development and Validation. |
| PubMed ID | 33277321(Europe PMC) |
| doi | 10.1158/1055-9965.epi-20-0900 |
| Publication Date | Dec. 4, 2020 |
| Journal | Cancer Epidemiol Biomarkers Prev |
| Author(s) | Rosner B, Tamimi RM, Kraft P, Gao C, Mu Y, Scott C, Winham SJ, Vachon CM, Colditz GA. |
| 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) |
|---|---|---|---|---|---|---|
| PGS000001 (PRS77_BC) |
PGP000001 | Mavaddat N et al. J Natl Cancer Inst (2015) |
Breast cancer | breast carcinoma | 77 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000001/ScoringFiles/PGS000001.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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM021128 | PGS000001 (PRS77_BC) |
PSS011536| Ancestry Not Reported| 1,166 individuals |
PGP000616 | Rosner B et al. Cancer Epidemiol Biomarkers Prev (2020) |Ext. |
Reported Trait: Incident invasive breast cancer (10- year risk) | OR: 1.41 [1.25, 1.59] β: 0.3432 (0.0696) |
— | — | — | — |
| PPM021129 | PGS000001 (PRS77_BC) |
PSS011536| Ancestry Not Reported| 1,166 individuals |
PGP000616 | Rosner B et al. Cancer Epidemiol Biomarkers Prev (2020) |Ext. |
Reported Trait: Incident invasive breast cancer (10- year risk) | OR: 1.37 [1.21, 1.55] β: 0.3154 (0.0631) |
— | — | Questionnaire score, percent mammographic density | — |
| PPM021130 | PGS000001 (PRS77_BC) |
PSS011536| Ancestry Not Reported| 1,166 individuals |
PGP000616 | Rosner B et al. Cancer Epidemiol Biomarkers Prev (2020) |Ext. |
Reported Trait: Incident invasive breast cancer (10- year risk) | — | AUROC: 0.658 | — | Age, percent mammographic density, questionnaire score | — |
| PPM021131 | PGS000001 (PRS77_BC) |
PSS011535| Ancestry Not Reported| 1,336 individuals |
PGP000616 | Rosner B et al. Cancer Epidemiol Biomarkers Prev (2020) |Ext. |
Reported Trait: Incident invasive breast cancer (10- year risk) | — | AUROC: 0.687 | — | Age, mammographic percent density, questionnaire score | — |
| PPM021132 | PGS000001 (PRS77_BC) |
PSS011536| Ancestry Not Reported| 1,166 individuals |
PGP000616 | Rosner B et al. Cancer Epidemiol Biomarkers Prev (2020) |Ext. |
Reported Trait: Incident invasive breast cancer (10- year risk) | — | AUROC: 0.659 | — | Age, BIRADs for mammographic density clasification, questionnaire score | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS011535 | Cases are individuals who were incident diagnosed with invasive breast cancer. | Mean = 10.0 years | [ ,
0.0 % Male samples |
— | Not reported | — | MMHS | — |
| PSS011536 | Cases are individuals who were diagnosed with invasive breast cancer. They were free from cancer at the beginning of the study. | Mean = 10.0 years | [ ,
0.0 % Male samples |
— | Not reported | — | NHS | — |