Page 100 - EJMO-9-1

Eurasian Journal of Medicine
and Oncology

ORIGINAL RESEARCH ARTICLE
Next-generation sequencing and bioinformatics

analysis in breast cancer research: Insights from
Western Kazakhstan

Marzhan Aitmagambetova 1 , Nazar Seidalin 2 , Dmitriy Babenko 3 ,
Gaziza Smagulova 4 , Saule Balmagambetova 1 , Arip Koishybaev 1 ,
Anar Tulyayeva 1 , Nurgul Kereyeva 1 , Dinara Zholmukhamedova 1 ,
4,5
Azamat Zharylgapov 1 , Nauryzbay Imanbayev 1 , Nurgul Ablakimova *
1 Department of Oncology, West Kazakhstan Marat Ospanov Medical University, Aktobe,
Kazakhstan
2 Department of Oncology, Hospital of the Medical Center of the Administration of the President of the
Republic of Kazakhstan, Astana, Kazakhstan
3 Scientific Research Center, Karaganda Medical University, Karaganda, Kazakhstan
4 Department of Pharmacology, Clinical Pharmacology, West Kazakhstan Marat Ospanov Medical
University, Aktobe, Kazakhstan
5 Department of Hospital Pharmacy, Regional Perinatal Center, Aktobe, Kazakhstan

Abstract
Breast cancer (BC) is one of the most prevalent malignancies among women worldwide
*Corresponding author: and a leading cause of cancer-related mortality. Studying gene mutations associated
Nurgul Ablakimova with BC risk in Kazakh women can help identify hereditary predispositions and
(n.ablakimova@zkmu.kz) facilitate early prevention. Next-generation sequencing (NGS) technology was used
Citation: Aitmagambetova M, to sequence 113 candidate genes, followed by bioinformatics analysis, on BC patients
Seidalin N, Babenko D, et al. from Western Kazakhstan. NGS sequencing revealed 28 polymorphisms from the
Next-generation sequencing and
bioinformatics analysis in breast genome-wide association studies catalog, seven of which were identified as statistically
cancer research: Insights from significant risk polymorphisms for BC: RARG (Rs2229774), FGFR2 (Rs2981582), ATM
Western Kazakhstan. Eurasian J (Rs1800057), MAP3K1 (Rs889312), BRCA2 (Rs11571833), FGFR2 (Rs7895676), and
Med Oncol. 2025;9(1):92-107.
doi: 10.36922/ejmo.5385 FGFR2 (Rs1219648). Inheritance model analysis showed that the polymorphism in the
Rs2981582 of the FGFR2 gene increased the likelihood of developing BC across four
Received: October 22, 2024 inheritance models. The Rs2229774 polymorphism of the RARG gene elevated BC risk
Revised: November 17, 2024 in three models, whereas the Rs889312 polymorphism of the MAP3K1 gene did so in
Accepted: November 20, 2024 two models. The Rs137852985 polymorphism of the BRIP1 gene raised BC risk in four
models, and Rs137852576 of the AR gene increased the risk in the codominant model.
Published online: December 13, 2024 In a one-factor risk prediction, 32 significant factors were identified, with risks ranging
Copyright: © 2024 Author(s). from 69.7% to 90.6%. The combination of polymorphisms “Rs2229774 (AG),” “Rs889312
This is an Open-Access article (AA, CC),” and “Age <54 years” yielded a high-risk assessment (95.8%), with a predictive
distributed under the terms of the
Creative Commons Attribution quality score of 0.88. Overall, NGS sequencing identified six statistically significant
License, permitting distribution, gene polymorphisms (ATM Rs1800057, RARG Rs2229774, BRCA2 Rs11571833, MAP3K1
and reproduction in any medium, Rs889312, FGFR2 Rs2981582, and BRIP1 Rs137852985) associated with a high risk of
provided the original work is
properly cited. BC in Kazakh women.
Publisher’s Note: AccScience
Publishing remains neutral with Keywords: Next-generation sequencing; Breast cancer; Genome-wide association study;
regard to jurisdictional claims in
published maps and institutional Single-nucleotide polymorphism; Bioinformatics analysis
affiliations

Volume 9 Issue 1 (2025) 92 doi: 10.36922/ejmo.5385