A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor.
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ABSTRACT:
SUBMITTER: Ratner N
PROVIDER: S-EPMC4822336 | biostudies-literature | 2015 May
REPOSITORIES: biostudies-literature
Publications
A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor.
Ratner Nancy N Miller Shyra J SJ
Nature reviews. Cancer 20150416 5
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 ...[more]
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