Hereditary forms of breast malignant neoplasms: prognosis, screening and prevention. A review

Abstract

Carriers of germinal mutations are at high risk of developing malignant neoplasms, characterized by an early age of manifestation, an aggressive course, and a high risk of recurrence. The wide introduction of medical genetic testing in the target population of potential carriers of germinal mutations will optimize primary prevention, screening, and treatment approaches. Primary prevention (removal of target organs) with BRCA½ mutation carriers should be based on the benefit-risk ratio; the development of screening programs should take into account the early age of disease manifestation, high breast density in young women, and the predominance of aggressive biological subtypes of the disease, which requires more intensive screening programs in this population. Pathogenetic adjuvant therapy with olaparib significantly reduces the risk of recurrence and death in patients with early BRCA - associated breast cancer and can also help prevent the development of second malignant neoplasms.