NF2, neurofibromin 2, 4771

N. diseases: 312; N. variants: 54
Disease: Acoustic Neuroma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE Analysis of the NF2 gene transcript in 53 unrelated patients with meningiomas and vestibular schwannomas revealed mutations in 32% of the sporadic meningiomas (n = 44), in 50% of the sporadic vestibular schwannomas (n = 4), in 100% of the tumors found in NF2 patients (n = 2), and in one of three tumors from multiple-meningioma patients. 7911002 1994
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE We performed a mutational analysis in 30 vestibular schwannomas and examined the effect of mutations on the NF2 protein. 7951231 1994
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE Somatic NF2 gene mutations were detected in 13 non-familial vestibular schwannomas and in one of the NF2 vestibular schwannomas. 8004107 1994
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE The exon 4 deletion represents the second most frequently reported mutation of the NF2 gene in VSs. 8557252 1996
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE Because there have been only a few studies of the NF2 gene on central nervous system tumors other than vestibular schwannomas, we investigated the potential role of NF2 as a tumor suppressor gene in a group of sporadic meningiomas and astrocytomas. 8559307 1995
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE In addition, the authors and others have reported that somatic NF2 gene mutations occur frequently in nonfamilial vestibular schwannoma. 8622160 1996
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 Biomarker disease BEFREE Immunohistochemical detection of schwannomin and neurofibromin in vestibular schwannomas, ependymomas and meningiomas. 9100669 1997
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE The purposes of this investigation are: 1. to determine what proportion of vestibular schwannomas from patients with spontaneous unilateral and familial bilateral schwannomas have mutations present within the NF2 gene; 2. to determine whether specific types of mutations are associated with a specific clinical manifestation of this disease; and 3. to further define the relationship between newly discovered mutations within the NF2 tumor-suppressor gene and possible clinical applications of this knowledge to advance diagnosis and treatment of patients with NF2 and spontaneous vestibular schwannomas. 9473065 1998
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE Chromosome 22q carries the locus of a tumor suppressor gene, the neurofibromatosis 2 (NF2) gene, which has been shown to be lost or mutated in some NF2-related tumors, sporadic meningiomas, and vestibular schwannomas, as well as a few other tumors. 9635681 1998
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE Blood samples from 125 unrelated families with classical type 2 neurofibromatosis (NF2) with bilateral vestibular schwannomas have been analysed for mutations in the NF2 gene. 9643284 1998
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE Polymerase chain reaction-single strand chain polymorphism was used to screen for germline NF-2 gene mutations in six families with unilateral vestibular schwannoma. 9674507 1998
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE Although mutational inactivation and allelic loss in the NF2 gene appear to be causal events in the majority of vestibular schwannomas, involvement of another potentially important mechanism, transcriptional inactivation, has not been investigated. 11380622 2001
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas. 12011146 2002
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE Despite a strong association of schwannomin/merlin gene mutations with vestibular schwannoma formation, the regulatory mechanisms and biologic pathways involved are still largely unknown. 12646839 2003
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 Biomarker disease BEFREE Molecular genetic analysis detected a 1-base pair deletion at exon 10 of the neurofibromatosis type 2 (NF2) gene in the trigeminal schwannoma, but not in the acoustic schwannoma. 15639530 2005
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 Biomarker disease BEFREE In addition, the interactions of merlin, the protein product of the NF2 gene, and other cellular proteins are beginning to give us a better idea of NF2 function and the pathogenesis of vestibular schwannomas. 16436990 2006
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 Biomarker disease BEFREE Immunohistochemical studies were performed to detect the protein product of the NF2 gene, merlin, in the four irradiated VS. NF2 staining was not observed. 16436992 2006
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE Neurofibromatosis 2 is caused by inactivating mutations of the NF2 gene, and is characterized by the development of nervous system tumours (mainly bilateral vestibular schwannomas), ocular abnormalities, and skin tumours. 16857415 2006
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 Biomarker disease BEFREE We found that merlin appeared in 98% of the VS tissue samples, with a mean cellular positivity of 46.66 +/- 5.75%. 17989580 2008
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 Biomarker disease LHGDN What are the implications in individuals with unilateral vestibular schwannoma and other neurogenic tumors? 18173316 2008
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE The neurofibromatosis 2 gene, which encodes the tumor suppressor protein merlin, is frequently mutated in vestibular schwannomas (VS). 18199958 2008
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 Biomarker disease BEFREE Protein extracts from VS or rat sciatic nerve (proximal or distal to a crush injury) were isolated into lipid raft and nonraft fractions and immunoblotted for erbB2, phosphorylated erbB2, and merlin (for sciatic nerve). 18199961 2008
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE The clinical characteristics of vestibular schwannomas and neurofibromatosis type 2 (NF2) syndromes have both been related to alterations in the NF2 gene. 18839347 2009
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE Genetic analysis of vestibular schwannoma tissue revealed loss of the ring chromosome 22 and a somatic second hit in the NF2 gene on the remaining chromosome 22. 19772601 2009
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		0.400 GeneticVariation disease BEFREE In this review, the authors summarized what is known about the epidemiology of NF2 mutations and patients with VSs. 19943731 2011