A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor

被引：348
作者：
Ratner, Nancy [1 ]
Miller, Shyra J. [1 ]
机构：
[1] Cincinnati Childrens Hosp, Canc & Blood Dis Inst, Div Expt Hematol & Canc Biol, Cincinnati, OH 45229 USA
来源：
NATURE REVIEWS CANCER | 2015年 / 15卷 / 05期
基金：
美国国家卫生研究院;
关键词：
NERVE SHEATH TUMOR; GASTROINTESTINAL STROMAL TUMORS; INTEGRATED GENOMIC ANALYSIS; RAS SIGNALING PATHWAY; OF-FUNCTION MUTATIONS; SOFT-TISSUE SARCOMA; SOUTH EAST WALES; SCHWANN-CELLS; NF1; LOSS; VONRECKLINGHAUSEN NEUROFIBROMATOSIS;
D O I：
10.1038/nrc3911
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
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.
引用
收藏
页码：290 / 301
页数：12
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