Molecular dissection of neurofibromatosis type 1 tumorigenesis

Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091 2009. Molecular dissection of neurofibromatosis type 1 tumorigenesis. PhD Thesis, Cardiff University.

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Abstract

The present study investigated the possible involvement of nine candidate genes in NF1 tumours by assessing loss of heterozygosity, promoter hypermethylation, and expression in NF1-related tumours. The CDKN2A/p16INK4a , RB1, TP53</italic> and MGMT genes have previously been found to be altered in NF1 tumours, and this was confirmed in this study. However, new candidate genes were also found to be involved in NF1 MPNSTs and rare malignancies (RARB, MLH1 and RASSF1A).

Item Type:	Thesis (PhD)
Status:	Unpublished
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects:	Q Science > QH Natural history > QH426 Genetics R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Date of First Compliant Deposit:	30 March 2016
Last Modified:	25 Oct 2022 08:43
URI:	https://orca.cardiff.ac.uk/id/eprint/54088

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