Relevance: Breast cancer (BC) ranks first in terms of prevalence among all malignant neoplasms in women in the Republic of Kazakhstan. Over the period 2015-2024, there has been a steady increase in the incidence, with the disease increasingly being detected in older women. Despite ongoing screening programs, breast cancer remains a significant cause of cancer mortality. For the first time, a comprehensive 10-year analysis of national breast cancer data was conducted with an assessment of the dynamics of morbidity, mortality, stage, and five-year survival. The study aimed to analyze changes in the incidence, mortality, survival, and stage of BC in women in the RK from 2015 to 2024 to assess the effectiveness of measures for early detection and treatment of the disease. Methods: The BC incidence and mortality analysis for 2015-2024 was based on official statistical reports (forms №7 and №090/U) and data from the national cancer registry. Demographic indicators were obtained from open sources of the Agency for Strategic Planning and Reforms of the Republic of Kazakhstan. Statistical processing was performed using SPSS software (version 23.0) with descriptive statistical methods, including calculating the means, confidence intervals, and trend rates. Results: During the study period, the incidence rate of BC increased from 45,7 to 47,6 per 100,000 women, while mortality declined from 14,2 to 7,8. Five-year survival rose by 81%, from 16,740 to 30,267 patients. The proportion of early-stage diagnoses (I-II) increased from 81,5% to 88,7%, and stage III cases nearly halved. The highest incidence was recorded in the 65-69 age group. A link has been established between screening coverage and mortality reduction. The results obtained refine and expand the previously presented regional data and can serve as a basis for improving preventive programs and improving the effectiveness of cancer care. Conclusion: Kazakhstan demonstrates a steady rise in BC incidence alongside a reduction in mortality and improvements in early diagnosis. These trends affirm the effectiveness of screening programs and oncologic care, although the stable rate of stage IV diagnoses highlights the need to eliminate barriers to timely medical consultation.

Background: Duchenne muscular dystrophy (DMD) results from pathogenic variants in the DMD gene, one of the most significant and most mutation-prone genes in the human genome. Although global mutation registries are well developed, genetic data from Central Asian populations remain extremely limited, leaving essential gaps in regional epidemiology and in the understanding of genotype–phenotype patterns. Methods: We conducted a retrospective analysis of patients with genetically confirmed dystrophinopathy in Kazakhstan. Variants were identified using multiplex ligation-dependent probe amplification (MLPA) for exon-level copy number alterations and next-generation sequencing (NGS) with Sanger confirmation for sequence-level changes. All variants were classified under ACMG guidelines. Statistical modelling incorporated mutation-class grouping, exon-hotspot mapping, reading-frame status, CPK stratification, chi-squared association testing, Spearman correlations, Kaplan–Meier ambulation survival curves, and multivariable logistic and Cox regression. Results: multi-exon deletions were the predominant mutation class, with a marked concentration within the canonical hotspot spanning exons 44–55. Recurrent deletions affecting exons 46–50 and 45–50 appeared in several unrelated patients. NGS confirmed severe protein-truncating variants, including p. Lys1049* and p. Ser861Ilefs*7. Phenotypic severity followed a consistent hierarchy: hotspot-associated deletions and early truncating variants showed the earliest loss of ambulation, whereas splice-site variants and duplications demonstrated the mildest courses. CPK levels correlated with the extent of genomic involvement, though extreme elevations did not consistently predict early functional decline. Regression models identified hotspot localization and out-of-frame effect as independent predictors of ambulation loss. Conclusions: This study provides the first statistically modelled characterisation of DMD gene mutations in Kazakhstan. While the mutational landscape largely mirrors global patterns, notable variability in clinical severity suggests the presence of population-specific modifiers. Integrating comprehensive molecular diagnostics with statistical-genetics approaches enhances prognostic accuracy and supports the development of mutation-targeted therapeutic strategies in Central Asia.

Relevance: Fibrocystic mastopathy is one of the most complex breast pathologies, occurring in about 60% of women. The causes and molecular mechanisms of cyst formation in fibrocystic mastopathy are not fully understood, and effective treatment methods are not widely implemented. However, there is evidence of the fibrocystic mastopathy malignization risk. We studied the molecular effect of the active agent danazol on the respiratory complex in mitochondria, which occur in various concentrations and are considered the cell energy center. A method of permeation with special substances was developed to improve the cell membrane permeability in the intracellular proteins and nucleic acids analysis. The scientists aimed to study the Mcf10a cell line mitochondrial respiratory complex using the permeabilization method. Purpose: To study the effect of different danazol concentrations on Mcf10a breast cells redox phosphorylation in women with fibrocystic mastopathy. Results: Monitoring the redox phosphorylation process using the respiratory complex substrates affecting the Msf10A breast cells respiratory chain showed the danazol 30 μM effect on the respiratory complex I. Conclusions: According to oxygraphic records, 10 minutes’ exposure to danazol 30 μM after permeabilization with digitonin increased the Msf10A cells’ oxidative phosphorylation compared with the control. The respiratory rate decreased by 45% ten minutes after treatment with digitonin.

The persistent evolution of SARS-CoV-2 necessitates novel antiviral strategies. This study evaluated the anti-HIV prodrugs tenofovir disoproxil fumarate (TDF) and tenofovir alafenamide (TAF) for repurposing against SARS-CoV-2, assessing key pharmacological indices (CC₅₀, EC₅₀, cytostatic effect, and therapeutic window). In vitro screening in Vero E6 cells measured cytotoxicity (via CCK-8/MTT assays) and antiviral activity against Kazakh B.1 and Wuhan strains. TDF (50 µg/mL) reduced high viral loads (MOI 2) by ~2 log₁₀ (100% inhibition), with minimal cytotoxicity (≥75% viability). TAF achieved near-complete suppression (100% inhibition) at 50 µg/mL, exhibiting dose-dependent inhibition (68–100%) at lower viral loads (MOI 0.01). Both prodrugs showed enhanced antiviral activity with prolonged exposure (96 h). Synergy assessments demonstrated favourable combination indices (CI < 1). Electron microscopy confirmed virion integrity post-treatment. These findings highlight TDF and TAF as promising candidates against SARS-CoV-2, with particular potential for targeting lymphoid reservoirs—sites implicated in persistent viral reservoirs that may contribute to long COVID pathogenesis. Further clinical validation is warranted.

Relevance: Currently, molecular diagnosis in NSCLC in Kazakhstan includes detection of EGFR, ALK driver mutations status, and PD-L1-status, but not ROS1, what limits the access of patients with this driver mutation to vital therapy. The study aimed to optimize the methods of molecular genetic diagnosis of patients with NSCLC by introducing ROS1 testing in the Republic of Kazakhstan. Methods: The biopsy and surgical material of non-small cell lung cancer (NSCLC) fixed in 10% buffered formalin was studied. After the initial morphological diagnosis of adenocarcinoma, EGFR, and ALK mutation status determination, EGFR, and ALK-negative tumor assays were sent for further determination of ROS1 mutation status. First, we performed immunohistochemistry (IHC) using the Ventana BenchMark Ultra platform using the ROS1 antibody (SP283) and the OptiView DAB Detection Kit imaging system. After that, samples with positive and doubtful IHC results were sent for RT-PCR (reverse transcriptase polymerase chain reaction) to confirm the ROS1 mutation status. Results: A total of 99 tumor samples from patients with EGFR-negative and ALK-negative lung adenocarcinoma were studied by IHC from January 01 till September 30, 2022. The results of IHC staining were assessed as: 0 (negative) – 59 samples, 1+ (negative) – 25 samples, 2+ (doubtful) – 12 samples, 3+ (positive) – 3 samples. Cases with ≥70% immunostaining were considered positive. Samples with an IHC stain score of 2+ (doubtful), 3+ (positive), and a few samples of 1+ were sent for confirmation by PCR. Overall, 22 samples were tested using RT-PCR, and results were considered as follows:1 (4%) – positive, 13 (59%) – negative, 8 (37%) -– invalid. Conclusion: A large proportion of positive and questionable results were obtained when determining ROS1 mutation status using IHC, and a large proportion of invalid results during subsequent RT-PCR testing. Choosing methods for nationwide ROS1 implementation, one should evaluate the economics of the methods to be implemented and compare them with a standard validated FISH method.