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Exploring the “two-hit hypothesis” in NF2: Tests of two-hit and three-hit models of vestibular schwannoma development by Ryan Woods; J. M. Friedman; D. Gareth R Evans; Michael E. Baser; Harry Joe is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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## Abstract Neurofibromatosis 2 (NF2) is a genetic disease that occurs in approximately 1 in 40,000 live births. Almost all affected individuals develop bilateral tumors of Schwann cells that surround the vestibular nerves; these tumors are known as vestibular schwannomas (VS). Evidence from molecular genetic studies suggests that at least two mutations are involved in formation of VS in patients with NF2. Several authors proposed probabilistic models for this process in other tumors, and showed that such models are consistent with incidence data. We evaluated two different probabilistic models for a “2‐hit” hypothesis for VS development in NF2 patients, and we present results from fitting these models to incidence data. Molecular evidence does not exclude the possibility that additional hits are necessary for the development of VS, and we also assessed a “3‐hit” model for tumor formation. The “3‐hit” model fits the data marginally better than one of the “2‐hit” models and much better than the other “2‐hit” model. Our findings suggest that more than two mutations may be necessary for VS development in NF2 patients. __Genet Epidemiol__ 24:265–272, 2003. © 2003 Wiley‐Liss, Inc.

Who reads Exploring the “two-hit hypothesis” in NF2: Tests of two-hit and three-hit models of vestibular schwannoma development?

Author

Ryan Woods; J. M. Friedman; D. Gareth R Evans; Michael E. Baser; Harry Joe

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley (ISSN 0741-0395)

Published

2003

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)