title: A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor.
abstract: Neurofibromatosis type 1 (NF1) is a common genetic disorder that predisposes affected individuals to tumours. The NF1 gene encodes a RAS GTPase-activating protein called neurofibromin and is one of several genes that (when mutant) affect RAS-MAPK signalling, causing related diseases collectively known as RASopathies. Several RASopathies, beyond NF1, are cancer predisposition syndromes. Somatic NF1 mutations also occur in 5-10% of human sporadic cancers and may contribute to resistance to therapy. To highlight areas for investigation in RASopathies and sporadic tumours with NF1 mutations, we summarize current knowledge of NF1 disease, the NF1 gene and neurofibromin, neurofibromin signalling pathways and recent developments in NF1 therapeutics.
authors: Division of Experimental Hematology and Cancer Biology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital, 3333 Burnet Avenue, Cincinnati, Ohio 45229, USA.
authors: Nancy
authors: N
authors: Ratner
authors: Division of Experimental Hematology and Cancer Biology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital, 3333 Burnet Avenue, Cincinnati, Ohio 45229, USA.
authors: Shyra J
authors: SJ
authors: Miller
mesh_terms: D020690:GTPase-Activating Proteins / Q000235:genetics; D016147:Genes, Tumor Suppressor; D011905:Genes, ras / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000235:genetics*; D025542:Neurofibromin 1 / Q000235:genetics*; D015398:Signal Transduction / Q000235:genetics
chemical_list: D020690:GTPase-Activating Proteins; D025542:Neurofibromin 1