Investigation of BRCA1-BRCA2 Gene Variations in Breast Cancer Patients in the Eastern Anatolian Region of Turkey: A Study of Genetic Predisposition and Clinical Outcomes

Objective: This study aims to investigate BRCA1 and BRCA2 gene variations in breast cancer patients in Eastern Anatolia region and to evaluate the effects of these variations on patients' genetic predisposition and clinical outcome. Materials and Methods: The study was conducted on 146 women diagnosed with breast cancer or with a family history of multiple breast cancer cases between 2020 and 2023. Genomic DNA was isolated from the participants and the entire BRCA1/2 genes were sequenced. The data were statistically analysed. Results: The study identified 17 different genetic variations in the BRCA genes. Four of these variations were classified as pathogenic, potentially causing significant changes in protein structure and increasing the risk of cancer. In addition, some variations were classified as Variants of Uncertain Significance (VUS), whose health effects remain unclear. Conclusion: This study elucidates the relationship between genetic predisposition and cancer development by investigating BRCA1 and BRCA2 gene variations in breast cancer patients in the Eastern Anatolian region. Four pathogenic variations in the BRCA genes were identified that have the potential to increase cancer risk. In addition, 12 variations were classified as VUS and their health effects have yet to be determined. Our findings provide important information for genetic counselling and disease management, enabling the development of personalised treatment approaches for patients.