Onkologie. 2026:20(1):54-57 | DOI: 10.36290/xon.2026.009

BRAF gene mutation in skin melanomas

Vladimír Bartoš, Anna Farkašová, Katarína Janíková

Martinské bioptické centrum, s. r. o., Martin

The BRAF gene is a proto-oncogene located on chromosome 7, whose mutations (especially at position V600) are significantly involved in the carcinogenesis of cutaneous melanoma, as well as other malignancies in humans. They occur in 8% of all solid tumors and in approximately 40-50% of skin melanomas. Patients suffering from melanomas with BRAF mutations have a worse prognosis and differ from BRAF-wild forms in several features. The basis of successful targeted treatment of persons with advanced melanomas harboring BRAF mutation is a combination of specific BRAF and MEK inhibitors. In this study, we evaluated 60 primary skin melanomas from 59 subjects, in which the mutational status of BRAF gene was detected from formalin-fixed and paraffin-embedded tumor tissue by PCR method. The BRAF gene mutation was found in 21 cases (35.0 %). It most often occurred in superficially spreading melanoma, in melanomas localized on the trunk and on the skin intermittently exposed to sunlight, and in younger people under 50 years of age. Our observations are generally consistent with literature data regarding the prevalence of the mutation and its association with some clinicopathological parameters of disease. Current perspectives focus mainly on preventing resistance to targeted therapy, understanding the differences in impact of individual types of BRAF mutations on kinase activity and inhibitor sensitivity, and their optimal therapeutic use in personalized medicine.

Keywords: melanoma, BRAF gene mutation, MAPK signal pathway, BRAF inhibitors.

Accepted: March 2, 2026; Published: March 16, 2026  Show citation