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Article

The NF1 somatic mutational landscape in sporadic human cancers.

Human genomics - 21 Jun 2017

Philpott Charlotte, Tovell Hannah, Frayling Ian M, Cooper David N, Upadhyaya Meena

Abstract excerpt

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 major known function of the NF1 gene product neurofibromin is to downregulate RAS. NF1 exhibits variable clinical...

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Identifiers

PMID: 28637487
DOI: 10.1186/s40246-017-0109-3
PMCID: PMC5480124

Genes

BRAF
EGFR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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