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BRCA and non-BRCA Variants Detected by Next Generation Sequencing in Patients with Hereditary Breast and/or Ovarian Cancer Syndrome
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Original Article
VOLUME: 55 ISSUE: 2
P: 77-84
2022

BRCA and non-BRCA Variants Detected by Next Generation Sequencing in Patients with Hereditary Breast and/or Ovarian Cancer Syndrome

Acta Haematol Oncol Turc 2022;55(2):77-84
DOI: 10.5505/aot.2022.82246
Hamide Betül Gerik-Çelebi 1
Hilmi Bolat 2
1. Department of Medical Genetics, Balıkesir Atatürk City Hospital, Balıkesir, Turkey
2. Department of Medical Genetics, Balıkesir University Faculty of Medicine, Balıkesir, Turkey
3.
No information available.
No information available
Received Date: 2021-12-06T10:34:32
Accepted Date: 2022-08-01T05:52:27
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Abstract

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.