MUTATION FREQUENCY OF IVS2+1G>A AND 1100delC POLYMORPHISM OF THE CHEK2 GENE IN THE UZBEK POPULATION
Keywords:
CHEK2, IVS2+1G>A, 1100delC, breast cancer, oncology, Uzbek population, apoptosis.Abstract
CHEK2 is one of the genes involved in DNA repair and plays an important role in the cell cycle, known as a tumor suppressor gene in breast cancer (BC). Our studies were aimed at studying the association of CHEK2 gene polymorphisms (IVS2+1G>A and 1100delC) with BC. DNA samples for the study were isolated from the peripheral blood of 300 women of Uzbek nationality, 200 of whom constituted the main group diagnosed with BC and 100 women constituted the control group. Blood samples were collected and stored in EDTA tubes. PCR amplification was performed using a Corbett Research GRADIENT PALM CYCLER PCR Analyzers CG1-96 (Australia). Of the 200 patients with breast cancer, 4 were found to have a heterozygous form of the 1100delC (C/G) genotype, and 6 patients were found to have a heterozygous form of the IVS2+1G>A (G/A) genotype.
References
Hu, C., Hart, S. N., Gnanaolivu, R., Huang, H., Lee, K. Y., Na, J., Gao, C., Lilyquist, J., Yadav, S., Boddicker, N. J., Samara, R., Klebba, J., Ambrosone, C. B., Anton-Culver, H., Auer, P., Bandera, E. V., Bernstein, L., Bertrand, K. A., Burnside, E. S., Couch, F. J. (2021). A Population-Based Study of Genes Previously Implicated in Breast Cancer. New England Journal of Medicine, 384(5), 440–451. https://doi.org/10.1056/NEJMoa2005936
Waks, A. G., & Winer, E. P. (2019). Breast Cancer Treatment: A Review. JAMA, 321(3), 288. https://doi.org/10.1001/jama.2018.19323
You, L., Lv, Z., Li, C., Ye, W., Zhou, Y., Jin, J., & Han, Q. (2021). Worldwide cancer statistics of adolescents and young adults in 2019: A systematic analysis of the Global Burden of Disease Study 2019. ESMO Open, 6(5), 100255. https://doi.org/10.1016/j.esmoop.2021.100255
Downloads
Published
Issue
Section
License
Copyright (c) 2025 Нилуфар Валиевна Худойбердиева, Муборак Махсумовна Абдуллаева, Гулбахор Толибжоновна Абдуллаева, Музаффар Худойбердиевич Умаров, Бакоева Гулноза Хабибуллаевна
This work is licensed under a Creative Commons Attribution 4.0 International License.