Pathogenic BRCA2 c.6341del gene variant in a patient with prostatic cancer from the North Ossetia
M. B. Bolieva, 
O. I. Brovkina,
D. S. Khodyrev,
A. G. Nikitin,
A. A. Epkhiev,
L. M. Voronkova,
M. G. Gordiev
O. I. Brovkina,
D. S. Khodyrev,
A. G. Nikitin,
A. A. Epkhiev,
L. M. Voronkova,
M. G. Gordiev https://doi.org/10.17650/1726-9776-2023-19-3-94-99
Abstract
Hereditary form of prostate cancer is often caused by pathogenic variants in genes associated with the DNA repair system. Identification of genetic aberrations allows to stratify patients into groups for personalization and improvement of therapy effectiveness. With this approach, it is important to take into account that the frequency of pathogenic variants can vary significantly in different ethnic populations.
The article presents a case of metastatic castration-resistant prostate cancer in a carrier of hereditary pathogenic variant in the BRCA2 gene c.6341del (р.Pro2114fs). The results support the need for genetic testing using up-to-date methods capable of detecting rare genetic variants.
Keywords
Supporting agencies: The work was performed with support from the Russian Science Foundation grant No. 21-75-00041 (https://rscf.ru/project/21-75-00041/).
About the Authors
M. B. Bolieva
Republican Oncological Dispensary, Ministry of Health of the Republic of North Ossetia – Alania
Russian Federation
Competing Interests:
Russian Federation
2 Zortova St., Vladikavkaz 362002
Competing Interests:
None
O. I. Brovkina
Federal Research Clinical Center for Specialized Types of Health Care and Medical Technologies, Federal Medical and Biological Agency
Russian Federation
Competing Interests:
Russian Federation
Olga I. Brovkina.
28 Orekhovyy Bul’var, Moscow 115682
Competing Interests:
None
D. S. Khodyrev
Federal Research Clinical Center for Specialized Types of Health Care and Medical Technologies, Federal Medical and Biological Agency
Russian Federation
Competing Interests:
Russian Federation
28 Orekhovyy Bul’var, Moscow 115682
Competing Interests:
None
A. G. Nikitin
Federal Research Clinical Center for Specialized Types of Health Care and Medical Technologies, Federal Medical and Biological Agency
Russian Federation
Competing Interests:
Russian Federation
28 Orekhovyy Bul’var, Moscow 115682
Competing Interests:
None
A. A. Epkhiev
Republican Oncological Dispensary, Ministry of Health of the Republic of North Ossetia – Alania
Russian Federation
Competing Interests:
Russian Federation
2 Zortova St., Vladikavkaz 362002
Competing Interests:
None
L. M. Voronkova
Voronezh Regional Clinical Oncology Dispensary
Russian Federation
Competing Interests:
Russian Federation
4 Vaytsekhovskogo St., Voronezh 394036
Competing Interests:
None
M. G. Gordiev
Diagnostic Center (Center for Laboratory Research), Moscow Healthcare Department
Russian Federation
Competing Interests:
Russian Federation
Build. 1, 49 Orekhovyy Bul’var, Moscow 115580
Competing Interests:
None
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For citations:
Bolieva M.B., Brovkina O.I., Khodyrev D.S., Nikitin A.G., Epkhiev A.A., Voronkova L.M., Gordiev M.G. Pathogenic BRCA2 c.6341del gene variant in a patient with prostatic cancer from the North Ossetia. Cancer Urology. 2023;19(3):94-99. (In Russ.) https://doi.org/10.17650/1726-9776-2023-19-3-94-99
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