P106: Expanding germline hereditary cancer gene panel testing by non-genetics providers: 3-year experience in large integrated healthcare delivery system
Conclusion:In summary, the caPRSx model outperformed the PRS313 and caPRS models in predicting breast cancer risk among AJ women.These findings underscore the importance of including specific ancestry adjustments in polygenic risk models, as demonstrated by the superior performance of caPRSx when AJ ancestry was incorporated.Given the known association of BRCA1 and BRCA2 variants in AJ women and the heightened screening in this population, it is essential that all breast cancer PRS models account for populations beyond the 1000 Genomes reference dataset when implemented clinically.Implementing such refined models in clinical practice could support more precise risk assessments and contribute to risk appropriate preventive strategies for breast cancer among women from diverse backgrounds.
Authors
- Trevor L. Hoffman (ORCID: https://orcid.org/0000-0002-1612-0213)
- Hilary Kershberg
- Farah Brasfield (ORCID: https://orcid.org/0000-0001-6614-841X)
- Reina Haque (ORCID: https://orcid.org/0000-0001-8563-3330)
- Jacquie Greenberg (ORCID: https://orcid.org/0000-0001-9202-0903)
- Devansu Tewari
- Mónica Alvarado (ORCID: https://orcid.org/0000-0002-3795-3847)
Institutions
- Kaiser Permanente (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102950
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00