Molecular genetic features of hereditary forms of breast cancer (systematic review)

• Published in: Farmakogenetika i farmakogenomika no. 1; pp. 33 - 45
• Main Authors: Serebryakova, A. V., Aliyev, K. A., Sorokina, L. E., Gritskevich, O. Yu, Zyablitskaya, E. Yu
• Format: Journal Article
• Language: English
• Published: 19-07-2023
• ISSN: 2686-8849; 2588-0527
• DOI: 10.37489/2588-0527-2023-1-33-45

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.