Prevalence of BRCA1 c.5161C>T mutation in cancer patients from Bashkortostan

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Abstract

Introduction. Despite the significant progress in investigation of genetic susceptibility to cancers, there are still unclear questions in the field of molecular epidemiology. Numerous new data obtained using modern sequencing technologies require large case/control studies in different populations.

The study objective – to investigate the prevalence of BRCA1*c.5161C>T mutation in unselected breast, ovarian and prostate cancer patients from Bashkortostan.

Materials and methods. In the presented study, the prevalence of the BRCA1*c.5161C>T mutation was assessed in breast cancer, ovarian cancer and prostate cancer patients (n = 696). The study cohorts includes individuals of Tatar and Bashkir ethnic origin living in Bashkortostan Republic.

Results. The BRCA1 mutation c.5161C>T was detected in patients with breast cancer, ovarian cancer and prostate cancer in individuals of Tatar ethnic origin with a frequency of ~1,3 % (6/449), but not in Bashkirs. This mutation was also detected in two individuals of control group (2/700). We conclude that the contribution of the BRCA1 mutation c.5161C>T to hereditary breast, ovarian and prostate cancers, is likely to be small in Bashkortostan Republic.

Conclusion. Further research will be required to investigate whether this mutation also plays a role in other populations of Turkic origin.

About the authors

M. A. Bermisheva

Institute of Biochemistry and Genetics of the Ufa Federal Research Center of Russian Academy of Sciences

Author for correspondence.
Email: marina_berm@mail.ru
ORCID iD: 0000-0002-0584-3969

Marina Alekssevna Bermisheva

71 prospekt Oktyabrya, Ufa 450054

Russian Federation

G. F. Zinnatullina

Republican Clinical Oncological Center, Ministry of Health of Republic of Bashkortostan

Email: fake@neicon.ru
ORCID iD: 0000-0001-8369-3399

73/1 prospekt Oktyabrya, Ufa 450054

Russian Federation

I. R. Gilyazova

Institute of Biochemistry and Genetics of the Ufa Federal Research Center of Russian Academy of Sciences

Email: fake@neicon.ru
ORCID iD: 0000-0001-9499-5632

71 prospekt Oktyabrya, Ufa 450054

Russian Federation

E. A. Ivanova

Institute of Biochemistry and Genetics of the Ufa Federal Research Center of Russian Academy of Sciences

Email: fake@neicon.ru
ORCID iD: 0000-0002-7853-8658

71 prospekt Oktyabrya, Ufa 450054

Russian Federation

D. D. Asadullina

Institute of Biochemistry and Genetics of the Ufa Federal Research Center of Russian Academy of Sciences

Email: fake@neicon.ru
ORCID iD: 0000-0003-4911-8037

71 prospekt Oktyabrya, Ufa 450054

Russian Federation

S. O. Potapov

Republican Clinical Oncological Center, Ministry of Health of Republic of Bashkortostan

Email: fake@neicon.ru
ORCID iD: 0000-0001-6494-0446

73/1 prospekt Oktyabrya, Ufa 450054

Russian Federation

A. T. Mustafin

Bashkir State Medical University

Email: fake@neicon.ru
ORCID iD: 0000-0001-9497-5244

3 Lenin St., Ufa 450008

Russian Federation

R. R. Ishemgulov

Bashkir State Medical University

Email: fake@neicon.ru
ORCID iD: 0000-0001-9521-4957

3 Lenin St., Ufa 450008

Russian Federation

V. N. Pavlov

Bashkir State Medical University

Email: fake@neicon.ru
ORCID iD: 0000-0003-2125-4897

3 Lenin St., Ufa 450008

Russian Federation

Sh. K. Gantcev

Bashkir State Medical University

Email: fake@neicon.ru
ORCID iD: 0000-0003-2047-963X

3 Lenin St., Ufa 450008

Russian Federation

E. K. Khusnutdinova

Institute of Biochemistry and Genetics of the Ufa Federal Research Center of Russian Academy of Sciences

Email: fake@neicon.ru
ORCID iD: 0000-0003-2987-3334

71 prospekt Oktyabrya, Ufa 450054

Russian Federation

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