The NF1 somatic mutational landscape in sporadic human cancers

Abstract Background Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man (OMIM) #162200) is an autosomal dominantly inherited tumour predisposition syndrome. Heritable constitutional mutations in the NF1 gene result in dysregulation of the RAS/MAPK pathway and are causative of NF1. The...

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Bibliographic Details
Main Authors: Charlotte Philpott, Hannah Tovell, Ian M. Frayling, David N. Cooper, Meena Upadhyaya
Format: Article
Language:English
Published: BMC 2017-06-01
Series:Human Genomics
Subjects:
NF1
Online Access:http://link.springer.com/article/10.1186/s40246-017-0109-3