Pathogenic Neurofibromatosis type 1 gene variants in tumors of non-NF1 patients and role of R1276.

Abstract excerpt

Neurofibromatosis type 1 (NF1) is a tumor predisposition syndrome associated with pathogenic variants affecting the GTPase-activating protein neurofibromin. Genetic variants affect neurofibromin through targeted protein degradation, failed aggregation of the monomers or failure of specific domains depending on the functional state. In addition to the occurrence in NF1, there is evidence of pathogenic variants...

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• NF1 gene
• Genes, Neurofibromatosis 1
• Genetic Predisposition to Disease
• Mutation
• Neoplasms