title: Absence of mutation at the GAP-related domain of the neurofibromatosis type 1 gene in sporadic neurofibrosarcomas and other bone and soft tissue sarcomas.
abstract: The NF1 gene encodes neurofibromin, a GTPase-activating protein containing a GAP-related domain (NF1-GRD) that is capable of downregulating ras by stimulating ras intrinsic GTPase activity. We tested 44 sarcomas, nine of which corresponded to sporadic neurofibrosarcomas, for mutations at the NF1-GRD by the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) technique, finding no mutation in every sample tested. We suggest that inactivation of the NF1-GRD by gene mutation seems not to be an important event in the tumorigenesis of sarcomas.
authors.affiliation: Instituto de Investigaciones Biomédicas, CSIC, Madrid, Spain.
authors.forename: L
authors.initials: L
authors.lastname: Gómez
authors.forename: C
authors.initials: C
authors.lastname: Barrios
authors.forename: A
authors.initials: A
authors.lastname: Kreicbergs
authors.forename: A
authors.initials: A
authors.lastname: Zetterberg
authors.forename: A
authors.initials: A
authors.lastname: Pestaña
authors.forename: J S
authors.initials: JS
authors.lastname: Castresana
mesh_terms: D001859:Bone Neoplasms / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D009456:Neurofibromatosis 1 / Q000235:genetics*; D025542:Neurofibromin 1; D018319:Neurofibrosarcoma / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D012509:Sarcoma / Q000235:genetics*; D012983:Soft Tissue Neoplasms / Q000235:genetics*
chemical_list: D025542:Neurofibromin 1; D011506:Proteins