Suppr超能文献

一种在癌症中常见突变的RAS病基因:1型神经纤维瘤病肿瘤抑制基因。

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

作者信息

Ratner Nancy, Miller Shyra J

机构信息

Division of Experimental Hematology and Cancer Biology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital, 3333 Burnet Avenue, Cincinnati, Ohio 45229, USA.

出版信息

Nat Rev Cancer. 2015 May;15(5):290-301. doi: 10.1038/nrc3911. Epub 2015 Apr 16.

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.

摘要

1型神经纤维瘤病(NF1)是一种常见的遗传性疾病,使受影响的个体易患肿瘤。NF1基因编码一种名为神经纤维瘤蛋白的RAS GTP酶激活蛋白,是几个(发生突变时)影响RAS-MAPK信号传导的基因之一,这些基因导致的相关疾病统称为RAS病。除NF1外,几种RAS病是癌症易感综合征。体细胞NF1突变也发生在5%-10%的人类散发性癌症中,可能导致治疗耐药。为了突出RAS病和具有NF1突变的散发性肿瘤的研究领域,我们总结了目前关于NF1疾病、NF1基因和神经纤维瘤蛋白、神经纤维瘤蛋白信号通路以及NF1治疗学最新进展的知识。

相似文献

1
A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor.
Nat Rev Cancer. 2015 May;15(5):290-301. doi: 10.1038/nrc3911. Epub 2015 Apr 16.
2
The NF1 gene in tumor syndromes and melanoma.
Lab Invest. 2017 Feb;97(2):146-157. doi: 10.1038/labinvest.2016.142. Epub 2017 Jan 9.
3
Neurofibromatosis Type 1 and tumorigenesis: molecular mechanisms and therapeutic implications.
Neurosurg Focus. 2010 Jan;28(1):E8. doi: 10.3171/2009.11.FOCUS09221.
4
Neurofibromatosis 1: closing the GAP between mice and men.
Curr Opin Genet Dev. 2003 Feb;13(1):20-7. doi: 10.1016/s0959-437x(02)00015-1.
5
Neurofibromatosis type 1: Fundamental insights into cell signalling and cancer.
Semin Cell Dev Biol. 2016 Apr;52:39-46. doi: 10.1016/j.semcdb.2016.02.007. Epub 2016 Feb 6.
6
[Molecular genetics of neurofibromatosis type 1].
Nihon Rinsho. 1993 Sep;51(9):2457-61.
8
Molecular targets for emerging anti-tumor therapies for neurofibromatosis type 1.
Biochem Pharmacol. 2006 Nov 30;72(11):1485-92. doi: 10.1016/j.bcp.2006.04.010. Epub 2006 Apr 28.
9
Neurofibromatosis type 1 peripheral nerve tumors: aberrant activation of the Ras pathway.
Surg Neurol. 1999 Feb;51(2):211-8. doi: 10.1016/s0090-3019(97)00356-x.
10
The NF1 somatic mutational landscape in sporadic human cancers.
Hum Genomics. 2017 Jun 21;11(1):13. doi: 10.1186/s40246-017-0109-3.

引用本文的文献

2
Selumetinib in Adult Neurofibromatosis 1 with Plexiform Neurofibroma.
Pharmaceuticals (Basel). 2025 Jul 13;18(7):1039. doi: 10.3390/ph18071039.
3
5
New models for MPNST: establishment and comprehensive characterization of two tumor cell lines.
Cancer Cell Int. 2025 Jul 18;25(1):268. doi: 10.1186/s12935-025-03845-4.
8
Pan-RAS inhibitor RMC-7977 is efficacious in treating NF1-related tumors.
Neurooncol Adv. 2025 Mar 23;7(1):vdaf065. doi: 10.1093/noajnl/vdaf065. eCollection 2025 Jan-Dec.
9
Treatment of ovarian cancer: From the past to the new era (Review).
Oncol Lett. 2025 Jun 3;30(2):384. doi: 10.3892/ol.2025.15130. eCollection 2025 Aug.
10
Targeting the KRAS Oncogene for Patients with Metastatic Colorectal Cancer.
Cancers (Basel). 2025 Apr 30;17(9):1512. doi: 10.3390/cancers17091512.

本文引用的文献

1
Cells of origin in the embryonic nerve roots for NF1-associated plexiform neurofibroma.
Cancer Cell. 2014 Nov 10;26(5):695-706. doi: 10.1016/j.ccell.2014.09.009. Epub 2014 Oct 30.
2
Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors.
Nat Genet. 2014 Nov;46(11):1170-2. doi: 10.1038/ng.3116. Epub 2014 Oct 12.
3
PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors.
Nat Genet. 2014 Nov;46(11):1227-32. doi: 10.1038/ng.3095. Epub 2014 Sep 21.
4
5
PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies.
Nature. 2014 Oct 9;514(7521):247-51. doi: 10.1038/nature13561. Epub 2014 Aug 13.
6
Sexually dimorphic RB inactivation underlies mesenchymal glioblastoma prevalence in males.
J Clin Invest. 2014 Sep;124(9):4123-33. doi: 10.1172/JCI71048. Epub 2014 Aug 1.
7
Neuronal NF1/RAS regulation of cyclic AMP requires atypical PKC activation.
Hum Mol Genet. 2014 Dec 20;23(25):6712-21. doi: 10.1093/hmg/ddu389. Epub 2014 Jul 28.
8
Next-generation sequencing identifies rare variants associated with Noonan syndrome.
Proc Natl Acad Sci U S A. 2014 Aug 5;111(31):11473-8. doi: 10.1073/pnas.1324128111. Epub 2014 Jul 21.
10
Neurofibromatosis type 1 alternative splicing is a key regulator of Ras signaling in neurons.
Mol Cell Biol. 2014 Jun;34(12):2188-97. doi: 10.1128/MCB.00019-14. Epub 2014 Apr 7.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验