Abstract

INTRODUCTION

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.

METHODS

All patients in our study were selected according to the current NCCN guideline test criteria. The Ion Torrent ™ Oncomine ™ 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 2 patients, one of the BRCA1 and one of the BRCA2 gene, respectively.

DISCUSSION AND 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 pıopulation and to evaluate the patogenity of variants of uncertain clinical significance.