Isparta Bölgesinde Meme ve/veya Over Kanseri Riski Taşıyan Hastalarda BRCA1 ve BRCA2 Gen Mutasyonlarının Yeni Nesil Dizileme Yöntemi ile Belirlenmesi

Abstract

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.