BRCA1 and BRCA2 Gene Mutations Screening In Sporadic Breast Cancer Patients In Kazakhstan.

Main Article Content

Ainur R. Akilzhanova
Bagdat Nyshanbekkyzy
Zhannur M. Nurkina
Ivan I. Shtephanov
Abay K. Makishev
Tasbolat A. Adylkhanov
Tolebay K. Rakhypbekov
Erlan M. Ramanculov
Kuvat T. Momynaliev


Background: A large number of distinct mutations in the BRCA1 and BRCA2 genes have been reported worldwide, but little is known regarding the role of these inherited susceptibility genes in breast cancer risk among Kazakhstan women.

Aim: To evaluate the role of BRCA1/2 mutations in Kazakhstan women presenting with sporadic breast cancer.

Methods: We investigated the distribution and nature of polymorphisms in BRCA1 and BRCA2 entire coding regions in 156 Kazakhstan sporadic breast cancer cases and 112 age-matched controls using automatic direct sequencing.

Results: We identified 22 distinct variants, including 16 missense mutations and 6 polymorphisms in BRCA1/2 genes. In BRCA1, 9 missense mutations and 3 synonymous polymorphisms were observed. In BRCA2, 7 missense mutations and 3 polymorphisms were detected. There was a higher prevalence of observed mutations in Caucasian breast cancer cases compared to Asian cases (p<0.05); higher frequencies of sequence variants were observed in Asian controls. No recurrent or founder mutations were observed in BRCA1/2 genes. There were no statistically significant differences in age at diagnosis, tumor histology, size of tumor, and lymph node involvement between women with breast cancer with or without the BRCA sequence alterations.

Conclusions:Considering the majority of breast cancer cases are sporadic, the present study will be helpful in the evaluation of the need for the genetic screening of BRCA1/2 mutations and reliable genetic counseling for Kazakhstan sporadic breast cancer patients. Evaluation of common polymorphisms and mutations and breast cancer risk in families with genetic predisposition to breast cancer is ongoing in another current investigation.


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How to Cite
Akilzhanova, A. R., Nyshanbekkyzy, B., Nurkina, Z. M., Shtephanov, I. I., Makishev, A. K., Adylkhanov, T. A., Rakhypbekov, T. K., Ramanculov, E. M., & Momynaliev, K. T. (2013). BRCA1 and BRCA2 Gene Mutations Screening In Sporadic Breast Cancer Patients In Kazakhstan. Central Asian Journal of Global Health, 2(1).
Author Biographies

Ainur R. Akilzhanova, Nazarbayev University, Center for Life Sciences National Center for Biotechnology

Department for Organization and Development of Genomic and Personalized Medicine


MD, PhD, DMSci

Director of the Department

Chief Research Scientist

National Scientific Laboratory for biotechnology

Bagdat Nyshanbekkyzy, National Center for Biotechnology

National Scientific Laboratory for biotechnology


BS, Junior Researcher

Zhannur M. Nurkina, Nazarbayev University, Center for Life Sciences National Center for biotechnology

Department for Organization and Development of Genomic and Personalized Medicine

BS, Junior Researcher
National Scientific Laboratory for biotechnology

Ivan I. Shtephanov, Astana State Medical University Astana Oncological Center

Astana State Medical University
Astana Oncological Center



MD, resident

Abay K. Makishev, Astana State Medical University Astana Oncological Center

Astana State Medical University
Astana Oncological Center


MD. DMSci, Professor

Chief of the oncology department

Tasbolat A. Adylkhanov, Semey State Medical University Semey Oncological Center

Semey State Medical University
Semey  Oncological Center




Tolebay K. Rakhypbekov, Semey State Medical University

Semey State Medical University


MD, DMSci, Professor


Erlan M. Ramanculov, National Center for biotechnology

National Center for biotechnology


Director General


Kuvat T. Momynaliev, National Center for biotechnology

National Center for biotechnology


MD, DMSci, Associate professor


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