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https://doi.org/10.18632/oncotarget.2194
Title: | The NF1 gene revisited -from bench to bedside | Authors: | Yap, Y.-S McPherson, J.R Ong, C.-K Rozen, S.G Teh, B.-T Lee, A.S.G Callen, D.F |
Keywords: | 2 (2 chloro 4 iodoanilino) n cyclopropylmethoxy 3,4 difluorobenzamide alisertib alpha2a interferon erlotinib everolimus imatinib isotretinoin n (2,3 dihydroxypropoxy) 3,4 difluoro 2 (2 fluoro 4 iodoanilino)benzamide neurofibromin pirfenidone placebo rapamycin retaspimycin selumetinib sorafenib thalidomide tipifarnib neurofibromin article brain tumor breast tumor cancer inhibition colorectal carcinoma down regulation drug potentiation drug targeting epigenetics gene deletion gene mutation gene sequence genetic association genetic procedures hematologic malignancy human lung cancer malignant peripheral nerve sheath tumor melanoma molecular diagnosis neurofibroma neurofibromatosis next generation sequencing NF1 gene nonhuman ovary carcinoma phase 1 clinical trial (topic) phase 2 clinical trial (topic) protein function somatic mutation tumor suppressor gene animal genetics neoplasm tumor suppressor gene Animals Genes, Neurofibromatosis 1 Humans Neoplasms Neurofibromin 1 |
Issue Date: | 2014 | Publisher: | Impact Journals LLC | Citation: | Yap, Y.-S, McPherson, J.R, Ong, C.-K, Rozen, S.G, Teh, B.-T, Lee, A.S.G, Callen, D.F (2014). The NF1 gene revisited -from bench to bedside. Oncotarget 5 (15) : 5873-5892. ScholarBank@NUS Repository. https://doi.org/10.18632/oncotarget.2194 | Abstract: | Neurofibromatosis type 1 (NF1) is a relatively common tumour predisposition syndrome related to germline aberrations of NF1, a tumour suppressor gene. The gene product neurofibromin is a negative regulator of the Ras cellular proliferation pathway, and also exerts tumour suppression via other mechanisms. Recent next-generation sequencing projects have revealed somatic NF1 aberrations in various sporadic tumours. NF1 plays a critical role in a wide range of tumours. NF1 alterations appear to be associated with resistance to therapy and adverse outcomes in several tumour types. Identification of a patient's germline or somatic NF1 aberrations can be challenging, as NF1 is one of the largest human genes, with a myriad of possible mutations. Epigenetic factors may also also contribute to inadequate levels of neurofibromin in cancer cells. Clinical trials of NF1-based therapeutic approaches are currently limited. Preclinical studies on neurofibromin-deficient malignancies have mainly been on malignant peripheral nerve sheath tumour cell lines or xenografts derived from NF1 patients. However, the emerging recognition of the role of NF1 in sporadic cancers may lead to the development of NF1-based treatments for other tumour types. Improved understanding of the implications of NF1 aberrations is critical for the development of novel therapeutic strategies. | Source Title: | Oncotarget | URI: | https://scholarbank.nus.edu.sg/handle/10635/174999 | ISSN: | 19492553 | DOI: | 10.18632/oncotarget.2194 |
Appears in Collections: | Elements Staff Publications |
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