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Title: Estudio genómico de schwannomas esporádicos y schwannomas asociados a neurofibromatosis tipo 2
Author: Ramos Fernández, José Antonio
Director: Ventura Royo, Carles  
Tutor: Castellanos Pérez, Elisabeth
Keywords: whole exome sequencing
neurofibromatosis type 2
Issue Date: 4-Jul-2019
Publisher: Universitat Oberta de Catalunya (UOC)
Abstract: Schwannomas are benign tumors composed by Schwann cells of nerves sheaths. They can arise spontaneously or as consequence of several genetic syndromes (for example neurofibromatosis type 2). Today there is not a completely effective treatment for this pathology and the molecular pathways involve are not fully understood. Mutations in NF2 gene have been found in different types of schwannomas and it could have a main role in the development of these tumors, although other genes may be implicated too. NGS technology, as for example, the whole exome sequencing, can be of great help in the seek for news molecular and therapeutic targets, improving the diagnostic and treatment of patients as well as our understanding of molecular pathways involved. The principal aim of this project was to find mutated genes related with the growing of these kinds of tumors, using data obtained from WES of sporadic and neurofibromatosis type 2 related schwannomas samples. Different bioinformatics tools were used, and a specific pipeline was designed to perform the analysis. Results suggest that sporadic schwannomas could need a greater number of mutations for their development and mutated gene found in sporadic and neurofibromatosis type 2 related schwannomas are involved in different biological process, suggesting that distinct molecular pathways are implicated in their development. In addition, NF2 gene was found altered in most of the samples showing it can have a main role, although other genes could have an important function, as PABPC3.
Language: Spanish
Appears in Collections:Bachelor thesis, research projects, etc.

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