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E-ISSN: 3061-9947
Investigation of BRCA2 Gene K3326X Variant in Patients with Breast and Ovarian Cancer by Next-Generation Sequencing Technique
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Original Article
VOLUME: 56 ISSUE: 2
P: 145-152
2023

Investigation of BRCA2 Gene K3326X Variant in Patients with Breast and Ovarian Cancer by Next-Generation Sequencing Technique

Acta Haematol Oncol Turc 2023;56(2):145-152
DOI: 10.5505/aot.2023.68815
Neslihan Düzkale 1
Cengiz Karaçin 2
Serap Yörübulut 3
Haktan Bağış Erdem 4
Özlem Öz 5
Mustafa Altınbaş 6
1. Diskapi Yildirim Beyazit Training and Research Hospital, Department of Medical Genetics, Ankara, Türkiye
2. Dr. Abdurrahman Yurtaslan Ankara Oncology Training and Research Hospital, Department of Medical Oncology, Ankara, Türkiye
3. Kirikkale University Faculty of Science and Letters, Department of Statistics, Kirikkale, Türkiye
4. Dr. Abdurrahman Yurtaslan Ankara Oncology Training and Research Hospital, Department of Medical Genetics, Ankara, Türkiye
5. Harran University Faculty of Medicine, Department of Medical Genetics, Sanliurfa, Türkiye
6. Diskapi Yildirim Beyazit Training and Research Hospital, Department of Medical Oncology, Ankara, Türkiye
7.
No information available.
No information available
Received Date: 2022-10-08T15:38:28
Accepted Date: 2023-08-07T09:04:01
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Abstract

INTRODUCTION

The BRCA2 gene is a tumor suppressor gene involved in the repair of double-stranded DNA damage by homologous recombination. Until now, many cancer-related variants of the BRCA2 gene have been reported. There are conflicting publications in studies of the possible effect of the K3326X variant of this gene in cancer. This study investigates the K3326X BRCA2 gene variant and its role in the cancer pathogenesis of Turkish patients diagnosed with breast and ovarian cancer.

METHODS

In the study, 1957 patients with cancer diagnosis for BRCA1 and BRCA2 genetic analysis and 432 healthy individuals without a history of cancer were included. The K3326X variant was investigated using the next-generation sequencing method from the genomic DNA sample obtained from the individuals.

RESULTS

K3326X variant was detected in 54 of 1957 (2.75%) cancer patients. For the non-cancerous group, 11 of 432 (2.5%) patients were carrying the K3326X variant. When both groups were compared in terms of K3326X variant carriage, a statistically significant result could not be obtained for the individuals (p=0.934).

DISCUSSION AND CONCLUSION

BRCA2 K3326X variant did not have a significant role in cancer etiopathogenesis. As a result, the variant whose clinical significance is not still been fully understood, was investigated for the first time for Turkish population. Our results suggest that the variant could be a benign variant.