Reclassification of variants of uncertain significance by race, ethnicity, and ancestry for patients at risk for breast cancer
Our findings demonstrate that REA is not significantly associated with VUS reclassification or time to reclassification, with the majority of VUS being downgraded across REA. This study allows for improved and more equitable genetic counseling. It may also provide more reassurance to those groups that may have a higher likelihood of VUS results.
Authors
- Versha Pleasant (ORCID: https://orcid.org/0000-0003-2752-9636)
- Kristen S. Purrington (ORCID: https://orcid.org/0000-0002-5710-1692)
- Kara J. Milliron (ORCID: https://orcid.org/0000-0002-4329-7874)
- Blair Richards (ORCID: https://orcid.org/0009-0009-1440-7040)
- James E. Boggan (ORCID: https://orcid.org/0000-0002-1858-7183)
- Sofia Diana Merajver (ORCID: https://orcid.org/0000-0002-6823-7130)
- Michael R. Simon (ORCID: https://orcid.org/0009-0005-8662-5734)
Institutions
- Wayne State University (US)
- University of Michigan (US)
- The Barbara Ann Karmanos Cancer Institute (US)
Publication Details
- Journal
- Frontiers in Oncology
- Published
- 2025-02-18
- DOI
- https://doi.org/10.3389/fonc.2025.1455509
- Citations
- 7
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 12.72
Funders
- Michigan Institute for Clinical and Health Research
- National Center for Advancing Translational Sciences