Генетически-ассоциированный рак молочной железы. Профилактика и лечение

Breast cancer (BC) occupies the first place in the structure of cancer incidence and mortality from malignant neoplasms among the female population of the Russian Federation. According to the latest statistics, there has been a steady increase in the incidence of breast cancer, which requires a more thorough study of possible measures to prevent its development. One of the modern methods of examination for suspected breast cancer is to carry out a genetic study for mutations that increase the risk of developing breast cancer compared with a group of patients with sporadic breast cancer. So, today a large number of genes are known that are associated with an increased risk of developing breast cancer, these genes include: BRCA1, BRCA2, CHEK2, TP53, STK-11 etc. If one or another mutation is detected in a patient, the risks of developing breast cancer increase, and if the disease has already been realized, then the risks of developing cancer of the contralateral breast. Thus, the cumulative risk of developing breast cancer in carriers of mutations in the BRCA1 gene to 80 years old is 72%, while the risk of developing ovarian cancer is 44% and 40% the risk of developing cancer of the contralateral breast. For carriers of mutations in the BRCA2 gene, the cumulative risk of developing breast cancer is 69%, the risk of developing ovarian cancer is 17% and 26% is the risk of developing cancer of the contralateral breast. Given the significant increase in the risks of developing breast cancer with carriage of a mutation in a particular gene, today, the urgent issue is the introduction of preventive surgery into widespread practice, since it is the implementation of preventive mastectomy that can significantly reduce the risks of developing breast cancer. This literature review presents the most relevant articles affecting this topic.