The Frequency and Reclassification of Variants Uncertain Significance in Hereditary Breast and Ovarian Cancer Among Levantine Patients
These findings reveal a high burden of non-informative variants in our population, yet lack of external and functional validation limit the generalizability of our study. Improved genetic diversity in reference datasets and regionally adapted classification strategies are required.
Authors
- Nada Assaf (ORCID: https://orcid.org/0000-0002-3352-2660)
- Carla Monsef
- Nagi S El Saghir (ORCID: https://orcid.org/0000-0002-6199-0314)
- Salim Jamil Sharab
Institutions
- American University of Beirut Medical Center (LB)
- American University of Beirut (LB)
Publication Details
- Journal
- Cancer Management and Research
- Published
- 2025-10-01
- DOI
- https://doi.org/10.2147/cmar.s551118
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00