Focus on women’s health in carriers of pathogenic variants in oncosyndrome genes (using a clinical case as an example).

Abstract

The current tactics of managing a 33-year-old woman, a carrier of a frequent pathogenic variant of the BRCA1 gene, are presented. The role of medical genetic counseling for women with inherited breast and ovarian cancer syndrome is mapped. Data on the importance of the use of genetic testing in clinical practice for predicting the development of cancer, conducting personalized dynamic observation, informing about options for reducing the risk of surgical interventions, possible treatment, conducting preimplantation research as the primary prevention of hereditary oncological syndromes are presented.