ОСОБЕННОСТИ ТАКТИКИ ВЕДЕНИЯ ПРИ НОСИТЕЛЬСТВЕ МУТАЦИЙ В ГЕНАХ BRCA У ЖЕНЩИН

Abstract

The aim of the study is to study the features of management tactics in the case of BRCA gene mutations in women using the example of a clinical case. Risk-reducing salpingo-oophrectomy is usually offered to women with mutations in BRCA1, BRCA2, or both of them, because, according to research, it improves overall survival and reduces the number of deaths from serous cancer and breast cancer. In this case, a comprehensive examination was carried out in a timely manner in a patient with breast cancer, including a medical and genetic one, which made it possible to identify the presence of a highly oncogenic type of mutation in the BRCA 2 gene. According to large–scale studies, women carrying this type of mutation represent a risk group for developing bilateral breast cancer, as well as ovarian cancer. In addition, carriers of a mutation in the BRCA2 gene are threatened by the occurrence of pancreatic and biliary tract cancers, stomach, fallopian tubes and skin melanoma. Carrying out preventive mastectomy and bilateral ovariectomy in such patients reduces their risk of malignant neoplasms. Therefore, the patient's complex therapy included these stages of surgical treatment. In addition, the detection of such a form of breast cancer associated with mutations in the BRCA genes makes it possible to expand the range of diagnostic search for malignant neoplasms, including in-depth examination of both the patient herself and her closest relatives. Such tactics of management of this group of patients allows them to avoid the occurrence of repeated cases of malignant neoplasms associated with the carriage of mutations in the BRCA genes with timely preventive examination and follow-up.