Molecular and genetic aspects of pathogenesis: somatic & germline mutations
pdf (Русский)

Keywords

melanoma
driver genes
somatic, germline mutations
molecular subtypes
review

How to Cite

Kazubskaia , T. P., Mekheda, L., Trofimov , E. I., Fomina , L. Y., Kharkevich , G. I., Belysheva, T. S., Kozlova , V. M., Sorokina , S. S., & Fridman , M. V. (2023). Molecular and genetic aspects of pathogenesis: somatic & germline mutations. Voprosy Onkologii, 69(1), 30–37. https://doi.org/10.37469/0507-3758-2023-69-1-30-37

Abstract

Melanoma has the highest mutation load among all solid tumors. Multiple somatic and germinal mutations associated with melanoma have been identified in various genes. Tumor progression is likely to include a number of so-called ‘driver genes’. The molecular classification of melanoma is largely based on these genes. This part of the review analyzes the changes in the KIT, NF1 RAC1 genes, according to the source of the primary tumor. The study provides the latest data on germinal and somatic mutations in CDKN2A, BAP1, TERT, MITF genes, and on other variants found in melanomas. The analysis allows to cover some gaps in understanding of causal mechanisms of the disease.

https://doi.org/10.37469/0507-3758-2023-69-1-30-37
pdf (Русский)

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