Role of the neurofibromatosis type 2 gene in the development of tumors of the nervous system.
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TLDR
Some of the most significant findings in NF2 genetics and biology over the last decade are described, including studies of patients with mosaicism and phenotype-genotype correlations.Abstract:
Germ line and somatic mutations in the neurofibromatosis Type 2 (NF2) tumor suppressor gene predispose individuals to tumors of the nervous system, including schwannomas and meningiomas Since identification of the NF2 gene more than a decade ago, a large body of information has been collected on the nature and consequences of these alterations in patients with NF2 and in individuals in whom sporadic tumors associated with NF2 develop The catalog of mutations identified thus far has facilitated extensive genetic analysis, including studies of patients with mosaicism and phenotype‐genotype correlations, and has also led to experiments that have begun to unravel the molecular biology of the NF2 gene and its role in tumorigenesis The authors describe some of the most significant findings in NF2 genetics and biology over the last decaderead more
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Is Simpson grade I removal necessary in all cases of spinal meningioma? Assessment of postoperative recurrence during long-term follow-up.
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Ansgar Zoch,Steffen Mayerl,Alexander Schulz,Thomas Greither,Lucien Frappart,Juliane Rübsam,Heike Heuer,Marco Giovannini,Helen Morrison +8 more
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Pulmonary meningioma and neurinoma associated with multiple CNS tumours in a patient with neurofibromatosis type 2
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Spinal Clear Cell Meningiomas: Clinical Features and Factors Predicting Recurrence.
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Cancer Predisposition Syndromes
TL;DR: The two-hit hypothesis, originally proposed in 1971 by Knudson, may explain why some individuals may be more prone to the development of primary tumors, or of subsequent tumors after tumorigenic therapies, as a result of inheriting a cancer-associated gene mutation.
References
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Mutation and Cancer: Statistical Study of Retinoblastoma
TL;DR: The hypothesis is developed that retinoblastoma is a cancer caused by two mutational events, in the dominantly inherited form, one mutation is inherited via the germinal cells and the second occurs in somatic cells.
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Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2
Guy A. Rouleau,P. Merel,Mohini Lutchman,Marc Sanson,Marc Sanson,Jessica Zucman,Claude Marineau,Khê Hoang-Xuan,S. Demczuk,Chantal Desmaze,Béatrice Plougastel,Stefan M. Pulst,Gilbert M. Lenoir,E. K. Bijlsma,Raimund Fashold,Jan P. Dumanski,Pieter J. de Jong,Dilys M. Parry,Roswell Eldrige,Alain Aurias,Olivier Delattre,Gilles Thomas +21 more
TL;DR: The deduced product has homology with proteins at the plasma membrane and cytoskeleton Interface, a previously unknown site of action of tumour suppressor genes in humans.
Journal ArticleDOI
A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor
James A. Trofatter,Mia MacCollin,Joni L. Rutter,Jill R. Murrell,Mabel P. Duyao,Dilys M. Parry,Roswell Eldridge,Nikolai Kley,Anil G. Menon,K Pulaski,Volker H. Haase,Christine Ambrose,David J. Munroe,Catherine Bove,Jonathan L. Haines,Robert L. Martuza,Marcy E. MacDonald,Bernd R. Seizinger,M. Priscilla Short,Alan Buckler,James F. Gusella +20 more
TL;DR: A candidate gene for the NF2 tumor suppressor that has suffered nonoverlapping deletions in DNA from two independent NF2 families and alterations in meningiomas from two unrelated NF2 patients is identified.
Journal Article
Neurofibromatosis. Conference statement, National Institute of Health development conference
Journal ArticleDOI
A Clinical Study of Type 2 Neurofibromatosis
TL;DR: The clinical features, age at onset of symptoms and survival of 150 patients with type 2 neurofibromatosis were studied and there are marked inter-family differences in disease severity and tumour susceptibility.
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