The role of mutations in NF1 gene in sporadic carcinogenesis

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Abstract

The review article presents data on somatic inactivation of NF1 gene as a cause of sporadic malignant neoplasms. The re- lationship between the features of specific tumors in neurofibromatosis type 1 and specific types of sporadic neoplasms, in which mutations in NF1 gene are found, are presented. Evidence for the role of somatic mutations in NF1 gene in the development of chemoresistance in melanoma, neuroblastoma, ovarian and breast cancer, and lung cancer is described (only if there are no mutations of known protooncogenes). To overcome the resistance of these neoplasms, inhibitors of mitogen-activated protein kinase have been proposed, the effectiveness of which has been proven in the treatment of plexiform neurofibromas. The review presents evidence of the relationship between NF1 and microRNA, which can be used for targeted therapy of both neurofibromatosis type 1 and sporadic neoplasms with mutations of this gene. Prospects for gene therapy of these diseases are considered.

About the authors

R. N. Mustafin

Bashkir State Medical University

Author for correspondence.
Email: fake@neicon.ru
ORCID iD: 0000-0002-4091-382X

3 Lenin St., Ufa 450008

Russian Federation

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