@article{article_1716788, title={Spectrum of BRCA1 and BRCA2 Variants in Breast Cancer Cases: A Single-Center Experience}, journal={Balıkesir Sağlık Bilimleri Dergisi}, volume={14}, pages={628–634}, year={2025}, author={Esener, Zeynep and Saray, Seray and İriağaç, Yakup and Genç Akdağ, Dilan and Bolat, Hilmi}, keywords={: Breast Cancer, BRCA1, BRCA2}, abstract={Objective: Hereditary breast cancers comprise approximately 5–10% of all breast cancer cases, with a significant portion linked to pathogenic alterations in the BRCA1 and BRCA2 genes. Detecting these variants is critical for risk assessment and clinical decision-making. The aim of this study is to contribute to the literature by examining the clinical spectrum and regional variant profile of BRCA1 and BRCA2-related hereditary breast cancer in patients diagnosed with breast cancer. Materials and Methods: A total of 128 breast cancer patients evaluated at Balıkesir University between December 2023 and February 2025 were analyzed for BRCA1 and BRCA2 variants using next-generation sequencing retrospectively. Multiplex ligation-dependent probe amplification (MLPA) testing results were evaluated for cases without pathogenic variants. Results: Pathogenic/likely pathogenic variants in BRCA1 and BRCA2 were found in 18 patients (14.06%). Pathogenic/likely pathogenic variants were detected in 12 patients (9.3%) with equal distribution between the two genes. Variants of uncertain significance were identified in 6 patients (4.7%). One patient had a deletion in exon 8 of BRCA1. Conclusion: Our study reveals the distribution of BRCA variants consistent with national and international data. Providing genetic counseling, screening first-degree relatives, and regular re-evaluation of variants are essential for early diagnosis and effective management of hereditary breast cancer}, number={3}, publisher={Balıkesir University}, organization={No funding was received for this study.}