BRCA1 and BRCA2 genes: population aspects of breast cancer between Tatar woman
Abstract
The aim of this work is a definition of occurrence frequency distribution of BRCA1 and BRCA2 genes mutations between Tatar woman. By next generation sequencing (NGS) method we analyzed BRCA1 and BRCA2 genes in 56 blood samples from Tatar population patients with hereditary breast cancer (BC). 15 blood samples from patients with Slavic origin were taken as a comparison group. The analysis results show that between 56 Tatar origin patients with hereditary BC was identified 16 mutations in BRCA1/BRCA2 genes (28%). It was found significant difference in the presence of 5382insC mutation between Slavic and Tatar woman.
Keywords
популяционные исследования,
BRCA1,
BRCA2,
NGS анализ,
population searches,
BRCA1,
BRCA2,
NGS analysis
About the Authors
O. I. Brovkina
Federal Research and Clinical Center of Federal medical-biology agency of Russia
Russian Federation
Russian Federation
M. G. Gordiev
Tatarstan Cancer Center
Russian Federation
Russian Federation
L. H. Shigapova
Казанский (Приволжский) федеральный университет
Russian Federation
Russian Federation
M. O. Druzhkov
Tatarstan Cancer Center
Russian Federation
Russian Federation
E. I. Shagimardanova
Kazan Federal University
Russian Federation
Russian Federation
R. F. Enikeev
Tatarstan Cancer Center
Russian Federation
Russian Federation
D. S. Khodyrev
Federal Research and Clinical Center of Federal medical-biology agency of Russia
Russian Federation
Russian Federation
O. A. Gusev
Kazan Federal University
Russian Federation
Russian Federation
A. G. Nikitin
Federal Research and Clinical Center of Federal medical-biology agency of Russia
Russian Federation
Russian Federation
References
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3. Любченко Л.Н. Наследственный рак молочной железы и/или яичников: ДНК-диагностика, индивидуальный прогноз, лечение и профилактика: дис. д-ра мед. наук - М.: 2009. - 281 c.
4. Хасанова А.И., Гордиев М.Г., Ратнер Е.Ю. и др. BRCA-ассоциированный рак молочной железы у представительниц татарской национальности на примере клинического случая //Приволжский онкологический вестник. - 2016. - T2(24). - C. 104-108.
Review
For citations:
Brovkina O.I., Gordiev M.G., Shigapova L.H., Druzhkov M.O., Shagimardanova E.I., Enikeev R.F., Khodyrev D.S., Gusev O.A., Nikitin A.G. BRCA1 and BRCA2 genes: population aspects of breast cancer between Tatar woman . Medical Genetics. 2016;15(10):50-52. (In Russ.)
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