PRIMARY-MULTIPLE METACHRONIC CANCER ASSOCIATED WITH MUTATION IN THE BRCA-1 GENE (CASE IN CLINICAL PRACTICE)

A.V. Pushkarev1, V.A. Pushkarev1,2, M.G. Galeev1, A.A. Izmailov1,2, N.I. Sultanbaeva1, Sh.I. Musin1, A.F. Nasretdinov1, K.V. Menshikov1,2, A.V. Sultanbaev1

1Republican Clinical Oncology Dispensary, Ufa

2Bashkir State Medical University, Ufa

Pushkarev Aleksey V. ― oncologist of the Republican Clinical Oncology Dispensary, ORCID: 0000-0002-0931-997Х

73/1 Oktyabrya Ave., Ufa, 450054, Russian Federation, e-mail: lesha-pushkaryov@mail.ru

Abstract. Hereditary forms of malignant tumors associated with mutations in the genes BRCA1 and BRCA2 are of particular interest in oncological practice, both in terms of the treatment of already developed cancer and in terms of preventive measures that can prevent undesirable outcomes of the disease. It is important to understand the features and mechanisms of tumor progression which are obtained also from the clinical experience of managing patients with hereditary oncological diseases.

The main objective of the publication was to analyze a clinical case of treatment of hereditary primary multiple BRCA1 associated breast and ovarian cancer in a patient of the Republican Clinical Oncology Dispensary (RCOD), to analyze the management and tactics of treatment based on data from medical records of outpatient and inpatient treatment.

Results. Carriers of BRCA1 and BRCA2 gene mutations are a complex group of patients that requires a special approach in treatment and assessment of the risks of disease progression throughout life. Studies of mutations in the BRCA1 and BRCA2 genes make it possible to use PARP inhibitors, which have been shown to be effective in the treatment of patients with hereditary forms of malignant diseases. Difficulty may also lie in the differential diagnosis of manifesting pathologies, in which it is important not to make a mistake in the formation of the general treatment tactics: palliative or radical.

Key words: primary-multiple malignancy, breast cancer, ovarian cancer, hereditary cancer, BRCA1, BRCA2, mutations, PARP inhibitors.