Аннотация

Резюме

To determine the frequency and spectrum of pathogenic mutations in the BRCA1 and BRCA2 genes in a selected cohort of patients with breast cancer in the Republic of Tajikistan and to assess their association with clinicopathological characteristics of the tumor, including age at diagnosis, tumor phenotype, and a positive family history of oncological diseases.

Материал и методы

The study included 55 female patients with breast pathology, of whom 49 had a confirmed diagnosis of breast cancer. Genetic testing was performed based on clinical indications, including age under 35 years, triple-negative tumor phenotype, and a positive family history of oncological diseases, as well as on a voluntary basis. 
Molecular genetic analysis of BRCA1 and BRCA2 mutations was performed using the polymerase chain reaction method in the Department of Biological Safety of the Molecular Biology Laboratory of the Agency CBRN NAS RT.

Результаты

In this study, pathogenic mutations were identified in 4 of 49 patients with a confirmed diagnosis of breast cancer (8,2%). All mutation-positive cases were associated with a positive family history of oncological diseases and were characterized by a triple-negative tumor phenotype. It should be noted that all patients carried the same mutation — BRCA1 (5382insC). Among the 6 patients who underwent testing on a voluntary basis, no mutations were detected. The distribution of mutation-positive cases by tumor location was equal: two patients had tumors in the left breast and two in the right breast.

Заключение

This study is the first to identify BRCA1 (5382insC) mutations in women with breast cancer in the region. The findings open new opportunities for the development of genetic testing and a personalized approach to prevention and treatment. At the same time, the polymerase chain reaction (PCR) method showed limited effectiveness: among 9 patients with a positive family history and triple-negative tumor phenotype, mutations were detected in only 4 patients. This underscores the need for further comprehensive studies and the implementation of more sensitive methods for a thorough investigation of genetic risk factors in the regional population.

Ключевые слова

Breast Cancer BRCA1 Gene BRCA2 Gene Genetic Screening Hereditary Cancer Polymerase Chain Reaction.

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Список литературы

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