Mutations in the Neurofibromin gene, an inhibitor of KRAS
Researchers in department of Cancer Prevention and in the Dallapiccola lab., University of Rome report mutation profiles of the NF1 gene, encoding neurofibromin - an inhibitor of KRAS signaling, in cancer predisposed individuals and in somatic tissues.
Bottillo and co-workers analyzed the whole coding sequence of the NF1 gene (61 exons, 11- to 13-kb transcript and 2818 amino acids) in 47 MPNST tumors. A different mutation spectrum was found between MPNSTs of von Recklinghausen patients (neurofibromatisis type 1, OMIM #162200) and those without a hereditary disease setting.