Molecular genetic testing for BRAF V600 gene mutations
 in melanoma in the Republic of Kazakhstan

Abstract

Relevance: Along with other diagnostic methods, all current recommendations and protocols for malignant tumors’
 diagnostics and treatment require mandatory molecular
 genetic testing at the initial diagnosis and in case of disease
 progression. The discovery of the BRAF gene mutation in skin
 melanoma allows the treatment with tyrosine kinase inhibitors, so-called BRAF inhibitors. This increases the probability of
 tumor response by half and opens up new therapeutic options.
 The study aimed to identify the BRAF V600E gene mutation frequency in patients with stage III-IV melanoma in the
 Republic of Kazakhstan to determine the need for targeted
 therapy.
 Results: 2251 persons are currently registered with melanoma in the Republic of Kazakhstan, with 355 new primary
 melanoma cases in 2019. Of them, 54% were diagnosed at
 stages III-IV and were subject to molecular genetic testing.
 278 of 2251 patients were sent for BRAF mutations testing.
 The mutations were detected in 105 (37.7%) patients.
 Conclusion: The introduction of molecular genetic
 testing for malignant neoplasms under the Comprehensive
 Cancer Control Plan framework for 2018-2022 will increase
 the use of molecular genetic methods in the Republic of Kazakhstan. Molecular genetic testing is an important step in
 diagnosing melanoma and choosing the appropriate therapy to personalize cancer treatment.