Özet:

INTRODUCTION: Breast cancer is the most frequently diagnosed female cancer according to the 2020 data of the World Health Organization. It is mostly sporadic, 5-10% of which occur on the basis of genetic predisposition. In this study, we aimed to detect mutations in BRCA and non-BRCA genes in patients admitted with the diagnosis of breast cancer and/or ovarian cancer, and to identify mutations with increased frequency and variants specific to the Turkish population. METHODS: 120 patients who applied to Balıkesir Atatürk City Hospital Medical Genetics Department between 01.01.2019-01.08.2021 and had hereditary Breast and/or Ovarian Cancer molecular genetic study criteria were included in this study. First, BRCA1/2 genes next-generation sequencing were performed on these patients, respectively. BRCA1 and BRCA2 gene deletion duplication analysis and/or multiple gene panel associated with cancer susceptibility were studied from patients with no mutations. RESULTS: In this study, molecular genetic susceptibility study associated with Hereditary Breast and/or Ovarian Cancer 33,33 % positive variants were found in BRCA and non-BRCA genes. BRCA1/2 mutations were detected in 20 patients. In addition, non-BRCA mutations (ATM, CHEK2, RAD50, RAD51D, STK11, SDHA, RB1, POLD1, SMAD4, CDH1 and CDKN22 genes) were detected in 20 patients. We identified a total of 7 new variants in the BRCA2, ATM, RAD50, RAD51D, STK11 and POLD1 genes. DISCUSSION AND CONCLUSION: Clarification of risks specific to non-BRCA genes is necessary for a better understanding of the HBOC genetic susceptibility spectrum. Therefore, multi-gene panel testing is needed after routine BRCA genes. In our study, most of the novel mutations were detected in non-BRCA genes. In addition, two novel BRCA variants have been reported. It also contributed to the identification of mutations specific to the Turkish population.

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