Özet:

and/or ovarian cancers. BRCA1 / BRCA2 genes are associated with 20-25% of these diseases. The spectrum and prevalence of BRCA1 and BRCA2 gene mutations are different in each population. Determining the prevalence of pathogenic mutations in susceptibility genes and identifying new mutations are important for developing national health policies. In this retrospective study, mutations in the BRCA1 / 2 genes of patients who applied to Süleyman Demirel University Faculty of Medicine Medical Genetics Clinic between 2018-2020 with the suspicion of breast / or ovarian cancer in the Isparta region were investigated. Material and Methods: In our study, BRCA1 and BRCA2 gene mutation analyzes were performed by Next Generation Sequencing (NGS) method in 76 patients who applied to the Medical Genetics Clinic with the indication of breast cancer, breast mass, family history, and ovarian cancer. Results: As a result of our data analysis, 4 pathogenic, 1 likely pathogenic, 5 variants of unknown significance (VUS), and 11 benign variants were detected in the BRCA1 gene. Also, 3 pathogenic, 3 VUS, 11 benign, and 1 new variant were detected in the BRCA2 gene. Conclusion: We believe that the results of our study will contribute to the determination of the prevalence of BRCA1 and BRCA2 gene mutations and the detection of breast and/or ovarian cancer.

Anahtar Kelimeler: