Ovarian cancer (OC) remains to be a leading cause of mortality among oncogynaecological patients. The low five-year survival rate of OC patients is associated with a lack of highly sensitive screening, early diagnostics and preventive methods, as well as high metastasis, recurrence and chemoresistance rates. Molecular genetic techniques for OC diagnosis based on standardized genetic panels can be used to detect a limited range of mutations in the BRCA1 and BRCA2 genes. However, the spectrum of genes potentially responsible for OC development is much wider. Recent data emphasize the importance of personalized approaches to account for ethno-population specifics in molecular genetic testing. This paper reviews recent data on the pathogenesis, molecular genetic diagnostic methods, and preventive strategies for OC.
Hypertrophic cardiomyopathy (HCM) is a genetically determined disease with a high prevalence and manifestation at the age of 30–40 years. Currently available most effective treatments are extended myectomy and Morrow septal myectomy. However, the frequent occurrence of postoperative complications and restrictions to the use of these methods in certain groups of patients provides rationale for the improvement of the existing treatment methods and search for new pharmacological approaches. One of the most promising areas of conservative therapy is the study of a specific small-molecule allosteric inhibitor of myosinadenosine triphosphatase (mavacamten). Clinical studies of the efficacy and safety of this drug continue to this day, and if they are successfully completed, the drug may be included in the pharmacotherapy protocol for HCM.
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