Hereditary Breast-Ovarian Cancer and BRCA1 / BRCA2 variants: a single center experience

Abstract

Objective: In this study, it was aimed to determine the frequency of BRCA1 and BRCA2 variants in patients admitted to our clinic with hereditary breast-ovarian cancer and / or family history and to evaluate them in the light of the literature. Materials and Methods: All patients in our study were selected according to the current NCCN guideline test criteria. The Ion Torrent TM Oncomine TM BRCA Research Assay was used to sequence the coding regions of the BRCA1 and BRCA2 genes in our patients. In addition, all patients with copy number changes were confirmed with SALSA MLPA Probemix P002 BRCA1 and Probemix P090 BRCA2 (MRC Holland). Results: Variants (pathogenic, likely pathogenic, variants of uncertain clinical significance, and copy number variations) were detected in 39 of the 149 patients included in the study. Novel variants that were not previously described in the literature were detected in two patients, one of the BRCA1 and one of the BRCA2 gene, respectively. Conclusion: In our study, the incidence of BRCA1 and BRCA2 variants was found to be 26.1%. This rate was higher than previous studies conducted in Turkey. Further studies are needed to identify common variants in the Turkish population and to evaluate the pathogenity of variants of uncertain clinical significance.