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The review presents classical and modern views on the molecular genetic causes underlying hereditary predisposition to breast and ovarian cancer. A computerized literature search was carried out in the electronic databases MEDLINE, Scopus, and Web of Science, published between January 1994 and May 2021, using the keywords: «hereditary breast and ovarian cancer», «BRCA» and «DNA repair». Current views on the role of germline mutations in genes for susceptibility to breast cancer (BC): BRCA1, BRCA2, PALB2, TP53, CHEK2, PTEN, ATM, and PPM1D are presented. The role of a complex of genes involved in homologous DNA repair and causing other hereditary oncological diseases is considered. The role of the loss of heterozygosity in these genes, which increases the level of chromosomal instability and leads to an increased risk of malignant transformation, is considered. Germinal mutations in the genes under consideration in 90% of clinical cases are the cause of initiation of tissue malignancy and greatly increase the risk of developing hereditary breast cancer and OC. The review emphasizes the complex nature of pathogenesis and significant polymorphism of genetic targets for hereditary breast cancer and OC. It is concluded that it is necessary to use NGS panels for complex screening of genes of hereditary susceptibility to these oncological diseases. The review provides data on the clinical significance of each group of genes of hereditary predisposition in the pathogenesis of breast cancer and OC, and also demonstrates the possible role of methylation of the promoter regions of genes and the state of mitochondrial DNA in the development of these pathologies. The purpose of this review was to broaden the horizons of specialists in the field of oncology and clinical diagnostics in the context of the rapidly expanding spectrum of molecular genetic markers of hereditary breast and ovarian cancers.

Systemic lupus erythematosus (SLE) is a severe rheumatic disease characterized by polysymptomatic clinical picture. At the present stage, there are no updated epidemiological data due to the low prevalence of the disease. The aim of the study was to examine the current clinical and epidemiological characteristics of patients with systemic lupus erythematosus based on the information contained in the territorial register, analysis of occurrence and symptoms at the early stage of the disease. This study demonstrated the epidemiological and clinical characteristics of SLE from the analysis of 107 cases during the period from 2011 to 2013 and retrospective analysis of the cases for 1980-2013. The epidemiological situation was evaluated based on extensive and intensive indicators using statistical software license. The current SLE prevalence was estimated at 5,59 per 100 000 population in 2013, the incidence between 1994 and 2003 at 0,29 per 100 000 population and between 2004 and 2013 at 0,49, with the peak in 2010 up to 1,35 per 100 000 population. The average absolute growth and growth rate of SLE in the first decade was 0,05% and 0,24%, in the second decade 0,001% and 0,006% respectively, with the female to male ratio being 9:1, mean age of the patients 37,62±11,65 years), and ethnic composition of 87 Slavs and 15 Crimean Tatars. The most common symptoms at the early (polyarthritis, fever, dermatitis) and advanced (polyarthritis, Raynaud's syndrome, carditis, myalgia) stages differed from those specified by American College of Rheumatology (1997). The difference between early and late symptoms of SLE was documented . Based on the data obtained, the division of the disease into clinical subtypes (phenotypes) is proposed.

5-year survival in the study group was 40.3±3.0%, average life expectancy - 3.4±3.3 years, in the control groups - 33.1±5.6% and 2.7±2.5 years respectively. It was concluded that spleen-preserving D2 lymphodissection decreases incidence of postoperative complications and has similar drastic nature as standard lymphodissection with splenectomy.

The interest in the problem of hereditary forms of breast cancer is due not only to the increase in the number of patients, but also to the existing features in relation to the phenotypic characteristics of these tumors, course features, and sensitivity to various therapy options. Unfortunately, the data of clinical trials that exist to date do not provide a complete picture of the course of various forms of hereditary breast cancer, sensitivity to therapeutic agents, adequate examination volumes and preventive measures. In this regard, there is a need to conduct prospective randomized trials to optimize treatment, screening and prevention programs. The rapid development of technologies in the field of molecular biology has made it possible to identify about 20 genes, the presence of mutations in which causes an increased risk of developing breast cancer. The aim of this review was to summarize the available data on the role of structural rearrangements of genes of varying degrees of penetrance associated with hereditary predisposition to breast cancer. The mechanism of hereditary breast cancer forms development is associated with rearrangements in DNA repair genes of varying degrees of penetrance. The identification of these mutations is of strategic importance for early diagnosis and the transition from an empirical to a targeted personalized approach in the treatment of various types of cancer. Understanding the pathogenesis of the disease at the molecular level makes it possible to make a breakthrough in the field of pharmacological innovations in order to create new selective classes of drugs in effective targeted therapy.