Hypermethylation of the BRCA2 gene promoter and its co-hypermethylation with the BRCA1 gene promoter in patients with breast cancer.

Background: The BRCA2 gene is an important tumour suppressor in breast cancer, and alterations in BRCA2 may lead to cancer progression. The aim of the study was to investigate the association of hypermethylation of the BRCA2 gene promoter and its co-hypermethylation with the BRCA1 gene promoter with the development and course of breast cancer in women.

Methods: This study included 74 women with breast cancer (tumour tissue samples and peripheral blood) and 62 women without oncological pathology (peripheral blood) - control group.

Association of the C3953T (rs1143634) variant of the interleukin 1 beta gene with the features of a complicated course of COVID-19-associated pneumonia.

Background: The pro-inflammatory cytokine IL-1 plays an important role in severe COVID-19. A change in IL-1 production may be associated with a mutation in the IL1Β gene. Our study analyzed the impact of the IL1Β gene variants (rs1143634) on disease progression in patients with severe COVID-19 pneumonia, taking into account treatment strategies.

GENETIC PREDICTORS OF TOXIC EFFECTS OF METHOTREXATE IN CANCER PATIENTS.

Today, methotrexate (MTX) is used in combination with other medicines to treat a wide range of malignancies. Despite its proven high efficacy, MTX often causes serious side effects, which may result in the need to reduce the dose of MTX or discontinue the drug altogether. This, in turn, can provoke the development of MTX resistance and cancer progression.

Combination of 15q24 Microdeletion Syndrome and Metabolic Imbalance in a Patient with Atypical Autism.

Autistic spectrum disorders (ASD) in children are becoming increasingly common, reaching epidemic proportions. Among the various causes contributing to the development of ASD, the leading place belongs to both chromosomal pathologies and genetic syndromes and their consequence - metabolic imbalance or severe metabolic disorders. Depending on the degree of metabolic pathway damage, certain phenotypes of ASD are formed.

CLINICAL SIGNIFICANCE OF BRCA1 GENE SEQUENCING AND ITS PROMOTER METHYLATION TESTING IN THE SEARCH STRATEGY FOR THERAPEUTIC TARGETS IN BREAST CANCER TREATMENT.

Background: Currently, there is a great interest in the genetic testing of BRCA1 and BRCA2 due to the fact that for patients with breast cancer (BC) with pathogenic variants of these genes, the use of the PARP inhibitors could be also provided in addition to implemented treatment protocols. The aim of this study was to characterize the molecular genetic structure of the BRCA1 gene in BC patients without progenitor germline mutations taking into account the methylation state of the promoter region.

Materials And Methods: The study involved 210 patients with newly diagnosed BC.

Clinical significance of determining the hypermethylation of the RUNX3 gene promoter and its cohypermethylation with the BRCA1 gene for patients with breast cancer.

Purpose: The aim of this study was to assess the clinical significance of RUNX3 gene hypermethylation in the pathogenetic mechanisms of breast cancer in women, taking into account its cohypermethylation with the BRCA1 gene.

Methods: This study included 74 women with newly diagnosed breast cancer (samples from female primary breast carcinomas and paired peripheral blood samples) and 62 women without oncological pathology-control group (peripheral blood samples). Epigenetic testing for hypermethylation status studying was performed in all samples on freshly collected material with the addition of a preservative before the storage and DNA isolation.

NOS3 (rs61722009) gene variants testing in prediction of COVID-19 pneumonia severity.

Background: There is a hypothesis that a sufficient level of endothelial nitric oxide synthase is important for reliable protection against COVID-19. Theoretical ideas about the NOS3 gene demonstrated that it can have an effect on links of the complications pathogenesis in COVID-associated pneumonia. We determined the goal - to investigate the association of the NOS3 gene variants with the occurrence of the disease and its clinical course in patients of the intensive care unit.

SFTPB (rs11130866) and NR3C1 (rs41423247) gene variants as potential clinical biomarkers for personalized treatment strategy selection in patients with severe COVID-19 pneumonia.

Background: Exploring the pathogenetic mechanisms behind severe lung damage in COVID-19 is crucial. In this study, we decided to focus on two molecular markers that affect surfactant metabolism and lung development: the surfactant protein B (SFTPB) and the glucocorticoid receptor (NR3C1) genes. The aim of our study was to determine the effect of SFTPB (rs11130866) and NR3C1 (rs41423247) gene variants on the course of the disease in patients with COVID-19, and the treatment measures they required.

Hyperhomocysteinemia in men and women of married couples with reproductive disorders. What is the difference?

Hyperhomocysteinemia (HHcy) is an autosomal recessive inherited metabolic disease caused by variations in folate metabolism genes, characterized by impaired methionine metabolism and accumulation of homocysteine (Hcy) in the blood serum. It was shown that men usually have higher plasma Hcy levels than women, but have not yet assessed the leading factors of these differences, which is important for the development of personalized protocols for the prevention of folate metabolism disorders in couples with reproductive disorders. This study aimed to analyze the effect of intergenic and gene-factor interactions on the risk of developing HHcy in men and women of married couples with reproductive disorders.

Methylation of promoter region of BRCA1 gene versus pathogenic variants of gene: risk factor or clinical marker of breast cancer.

Background: In this study, we compared the contribution of pathogenic variants of the BRCA1/2 genes (5382insC, 185delAG, 6174delT, 4153delA, T300G) and hypermethylation of the BRCA1 gene promoter region to the risk of breast cancer and clinical features in women.

Methods: This study enrolled 74 women (tumor tissue, blood) with newly diagnosed breast cancer and 62 women (blood) without oncological pathology (control group). Molecular genetic testing of samples and determination of hypermethylation status were performed on freshly collected material with the addition of a preservative before the procedure of DNA isolation.

Betaine consumption as a new clinical approach to treatment and prophylaxis of folate-related pathologies.

The most important pathway in the development of folate-related pathologies is an increase in the level of homocysteine (HC). HC, a cytotoxic and neurotoxic amino acid (when its level is ≥12 μmol/L), is 1 of the most widely studied compounds in cardiology, neurobiology, oncology, and embryology for the last 20 years. Given its toxicity, the processes of endogenous detoxification of HC are of particular interest to medicine.

The analysis of using a panel of the most common variants in the gene for the newborn screening in Ukraine.

Phenylketonuria (PKU) is hyperphenylalaninemia that develops due to a deficiency of the phenylalanine hydroxylase enzyme (PAH). Identification of variants in the gene is necessary for verification of the diagnosis, choice of treatment tactics, detection of heterozygous carriers. The aim of the study was to analyze the effectiveness of identification of selected pathological variants in the gene during the newborn screening program.

Contribution of BRCA1 5382insC mutation to triplene-gative and luminal types of breast cancer in Ukraine.

Purpose: The gene BRCA1 plays a key role in DNA repair in breast and ovarian cell lines and this is considered one of target tumor suppressor genes in same line of cancers. The 5382insC mutation is among the most frequently detected in patients (Eastern Europe) with triple-negative breast cancer (TNBC). In Ukraine, there is not enough awareness of necessity to test patients with TNBC for BRCA1 mutations.

Associations of variants of folate cycle genes with features of the clinical course of severe intraventricular hemorrhages in premature infants.

Background: Summary data indicate that it has increased attention to the study of the role of the folate cycle and the genes encoding its key components in the complicated course of the neonatal period in premature infants. Therefore, the aim of our study was to investigate the relationship of folate cycle gene variants with the features of the neonatal course in premature infants with severe intraventricular hemorrhages (IVH).

Methods: The study included 24 preterm infants with with IVHs of 3d and 4th degree that received standard clinical, laboratory and instrumental examination.

CYP2C19*2 gene variant (G681A, rs4244285) as a prognostic marker for the clinical course of multiple myeloma.

Background: Multiple myeloma (MM) is the most common type of paraproteinemic hemoblastosis, which is characterized by an aggressive course, high mortality and a large number of complications. The G681A variant (*2, rs4244285) of the CYP2C19 gene leads to the formation of an inactive enzyme and, as a consequence, may affect the development and course of MM. The aim of this research was to analyze the effect of the G681A variant of the CYP2C19 gene on the risk of the development of MM and its course.

Modifying effects of , and genes on the development risk and the course of COVID-19. Pilot study.

Objectives: COVID-19 continues to range around the world and set morbidity and mortality antirecords. Determining the role of genetic factors in the development of COVID-19 may contribute to the understanding of the pathogenetic mechanisms that lead to the development of complications and fatalities in this disease. The aim of our study was to analyze the effect of (rs1800629), (rs1800795) and (rs731236 and rs1544410) genes variants on the development risk and the course of COVID-19 in intensive care patients.

VARIANTS OF IL1 (C3954T, RS1143634), PON1 (C108T, RS705379) GENES AS PROGNOSTIC MARKERS OF OSTEOMYELITIS RISK AND ITS COMPLICATIONS.

The aim of the work was to study the effect of IL1Β (C3954T, rs1143634), PON1 (C108T, rs705379) gene variants on the risk of bacterial osteomyelitis development and its complicated course. The study involved 56 patients with osteomyelitis - 20 with not complicated (non-recurrent) course after treatment and 36 with complicated (recurrent) course. The data of population frequencies for the European population, obtained from the open database of "1000 Genomes project", were used as a control group.

ESR1 gene variants affect FSHR-depended risk of fibrocystic mastopathy in infertile women.

Background: The infertile women have an increased risk of developing benign and malignant tumors, in particular, breast cancer. Most studies have examined the role of gene variants in the risk of developing breast cancer, but there is little evidence of genetic risk factors for benign tumors.

Aim: To assess the combined genetic risk of developing mastopathy in women with FSHR (rs6165, rs6166) and ESR1 (rs9340799, rs2234693) gene variants.

A variant of TP53 gene (rs 1625895, 13494g>A) is associated with neoplasm localization in patients with uterine leiomyoma.

Background: Uterine leiomyoma (UL) is the most common benign neoplasm of the uterus. It is still unknown surely what exactly initiates transformation of the uterine myometrial cells into UL.

Aim: To study the effect of the TP53 gene variants on the risk of development and clinical features of UL.

Prevalence of BRCA1 and BRCA2 genes promoter hypermethylation in breast cancer tissue.

Background: Recent advances in the treatment of breast cancer (BC) have been related to the personalization of therapy. The methylation status of the promoter regions of tumor suppressor genes such as BRCA1 and BRCA2 is supposed to be useful as a prognostic factor in BC patients.

Aim: To investigate the frequency of hypermethylation in the promoter regions of BRCA1 and BRCA2 genes in tumor tissue of BC patients, and the relation of hypermethylation to the clinical course of the disease.

POSITIVE EFFECT OF BETAINE-ARGININE SUPPLEMENT ON IMPROVED HYPERHOMOCYSTEINEMIA TREATMENT IN MARRIED COUPLES WITH REPRODUCTIVE DISORDERS.

Treatment of hereditary hyperhomocysteinemia and the achievement of optimal folate status is necessary for persons of reproductive age in order to increase live birth rate. Patients are usually advised to take folic acid, a key nutrient in homocysteine remethylation. The results of study showed risk factors for hyperhomocysteinemia development in investigated married couples: male gender, MTHFR, MTR1 genes variants, lower vitamin B12 blood serum and no additional intake of vitamin B12.

ESR1 GENE RELATED RISK IN THE DEVELOPMENT OF IDIOPATHIC INFERTILITY AND EARLY PREGNANCY LOSS IN MARRIED COUPLES.

The aim of the work was to assess genetic risk of reproductive disorders in married couples, conditioned by polymorphic variants A-351G and T-397C of ESR1gene. The study involved 412 persons - 206 married couples: 69 married couples with idiopathic infertility, lasting over 5 years, and 137 married couples with early reproductive losses in their past medical history. The data of population frequencies for the European population, obtained from the open database of 1000 Genomes project, were used as a comparison group.

Association between rankl [RS9594759] and IL10 [RS1800896] Genes polymorphism and deciduous tooth eruption terms in Ukrainians born macrosomic.

Objective: The aim: The article deals with analyzing the influence of polymorphic variants of CYP19A1 [rs2414096, rs936306], ESR1 [rs2234693, rs9340799], IL1 [rs1143627], IL6 [rs1800796], IL10 [rs1800896] and RANKL [rs959389] genes on deciduous tooth eruption terms in individuals born macrosomic.

Patients And Methods: Materials and methods: 171 individuals participated in the multi-stage study (144 macosomic-at-birth individuals and 27 normosomic-at-birth persons). This study included only persons who have preserved information about the timing of deciduous tooth eruption - 159 persons (aged from 4 to 55 years), male and female (male / female ratio was 1.

Modern view on epidermal dysplasia carcinogenesis.

Unlabelled: Squamous cell carcinoma of the skin develops from the spectrum of facultative precancerous conditions, which in the course of malignant transformation through cancer stage in situ without early treatment fully transform into invasive squamous cell carcinoma. According to classical model of carcinogenesis, the transformation of actinic keratosis into squamous cell carcinoma of the skin occurs due to a mutation in one gene, more often a tumor suppressor, and undergoes a stage of development with lack of control of cell cycle. The aim of the research is to supplement current knowledge of genetic determination of pathogenetic mechanisms of epidermal dysplasia of the skin by studying the genetic determinant in the skin lesion of varying degrees of malignancy.

THE ROLE OF PRO12ALA POLYMORPHISM OF THE PPAR-Γ GENE IN THE GENESIS OF THE GESTATIONAL WEIGHT GAIN.

The aim of this study was to determine the role of Pro12Ala polymorphism of the PPAR-γ gene, associated with lipid and carbohydrate metabolism, in the genesis of gestational weight gain (GWG). We performed anthropometry, the determination of GWG, the study of PPAR-γ Pro12Ala polymorphism, the concentration of markers of lipid and carbohydrate metabolism in 97 pregnant women with normal body weight before pregnancy (55.2±4.