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Molecular Medicine
Found: 72
Introduction. Multiple primary malignant neoplasms (MPMN) most often develop in individuals with a hereditary predisposition to oncological diseases. There are inherited allelic variants of oncogenes, tumor suppressor genes and their combinations which disrupt…
Introduction. Ovarian clear cell carcinoma (OCCC) is a subtype of epithelial ovarian cancer characterized by frequent mutations in the ARID1A gene and low sensitivity to standard-of-care chemotherapeutic agents. The aim of the study. To determine the role of A…
The review considers the role of hyaluronic acid (HA), primarily low-molecular-weight fractions of HA, in the regulation of the cell cycle of tumor cells. The formation of a pool of low-molecular weight HA molecules is due to the high activity of hyaluronidase…
Background. Lung cancer is the most frequent cause of cancer mortality. The prevailing type is non-small cell lung cancer (NSCLC), in the treatment of which EGFR tyrosine kinase inhibitors are actively used, as well as a combination of BRAF and MEK inhibitors.…
Congenital adrenal hyperplasia (CAH) is a group of disorders caused by mutations in genes that encode steroidogenic enzymes. The most frequent form of CAH is caused by defects in CYP21A2 gene leading to 21-hydroxylase deficiency (21-OHD). There are 3 clinical …
Introduction. Thyroid cancer (TC) is the most prevalent cancer among malignant neoplasms of the organs of the endocrine system. Cytological categories Bethesda III–V of TC are considered to be the most difficult for making a diagnosis. Molecular genetic tests …
Cutaneous melanoma is a highly heterogeneous malignancy, which characterized by low effectiveness of chemotherapeutic antitumor agents. 50% of melanomas have a somatic mutation in BRAF oncogene, leading to uncontrolled activation of mitogen-activated protein k…
Introduction. Hemophilia A is a frequent X-linked recessive disorder associated with the absence or functional defect of blood clotting factor VIII. Вoth point mutations and large structural rearrangements – deletions, duplications, and inversions were describ…
Cardiomyopathies are diseases that affect the heart muscle. They are characterized by myocardial dysfunction in the absence or low severity of common cardiovascular diseases, such as coronary atherosclerosis, hypertension, valvular heart diseases. Cardiomyopat…
Introduction. The telomerase reverse transcriptase gene (TERT) promoter region is frequently mutated in different types of cancer. Several studies have shown patients who carry the mutation –245T>C (rs2853669) to have a worse prognosis. The aim of the study is…
Introduction. In recent years, there have been aroused and actively studied mutations associated with Toll-like receptor genes (TLRs). The emerging interest is related to the identification of many associations between the TLRs polymorphism and the development…
The review highlights current data on molecular pathogenesis and potential markers of clear cell renal cell carcinoma, obtained in MultiOmyx studies. Key molecular mechanisms of the pathogenesis of RCC are the loss of functions of the VHL, PBRM1, SETD2, BAP1, …
Background. Genotyping of the tumor samples is necessary for a personalized approach in the treatment of patients with malignancies. The identification of somatic mutations in EGFR and KRAS genes can help to predict the course of the disease and to individuali…
Introduction. Breast cancer is the leading cancer type among woman of Azerbaijan population. Hereditary mutations of the BRCA1/2 genes are considered as high risk for appeared breast and ovarian cancers. In Azerbaijan BRCA1/2-related breast and ovarian cancer …
The review presents data on the role of the nuclear factor NF-κB and the von Hippel-Lindau protein (VHL) in the development of kidney cancer. Chemo- and radioresistance, specific for renal cell carcinoma, represented a significant problem in the treatment of p…
Introduction. The origin of the genetic predisposition to family adenomatous polyposis is associated with functional disorders of the repair system. The molecular mechanism of this phenomenon is not sufficiently studied and need clarification. The aim of the s…
The aim of the study is an investigation of the association between mutations A1744S of MYH7, 9928_9929insE of TTN, T171M of CACNA1C, A189T of JPH2, S434Y of VCL, H4552R of RYR2, Y1495X of SCN5A and the sudden cardiac death (SCD). Investigating mutations were …
Introduction. The study of the prevalence of genetic risk factors for thrombosis-associated diseases in the indigenous population of Siberia is an important issue in current medicine. The aim of the study. The aim of this work is to study the allele frequencie…
Introduction. Papillary thyroid cancer (PTC) is the most common malignancy of the endocrine system. As the most frequent genetic alteration BRAF V600E mutation in PTC leads to changes in the activity of intracellular signaling pathways. As a result, expression…
Uveal melanoma (UM) is a rare, aggressive intraocular malignant tumor, leading to metastatic disease in more than 50% of patients. Cytogenetic and molecular studies have identified some genetic prognostic factors considered to be reliable to forecast the survi…