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Article

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas.

European journal of human genetics : EJHG - 1 Apr 2012

Thomas Laura, Spurlock Gill, Eudall Claire, Thomas Nick S, Mort Matthew, Hamby Stephen E, Chuzhanova Nadia, Brems Hilde, Legius Eric, Cooper David N, Upadhyaya Meena

Abstract excerpt

Neurofibromatosis type-1 (NF1), caused by heterozygous inactivation of the NF1 tumour suppressor gene, is associated with the development of benign and malignant peripheral nerve sheath tumours (MPNSTs). Although numerous germline NF1 mutations have been identified, relatively few somatic NF1 mutations have been described in neurofibromas. Here we have screened 109 cutaneous neurofibromas, excised from 46...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22108604
DOI: 10.1038/ejhg.2011.207
PMCID: PMC3306856

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