discussion-presentation54

• NF 1 is caused by loss of function mutations in the tumorsuppressorNF1 gene .
• This gene is located on chromosome 17q11.2 that encode for neurofibromin ,a negative regulator of RAS proteins
• Mutations in NF1 gene result in constitutive activation of RAS activity triggering a kinase cascade and the activation of mitogen activated protein kinases (MAPK), mammalian target of rapamycin (mTOR), and PI3Kpathways,allowing enhance cellular proliferation