NF1
HGNC ↗3 article(s) in the watch · Constitutional genetics · Cancer genetics
NF1 encodes neurofibromin, a negative regulator of the RAS pathway. Loss of function causes neurofibromatosis type 1.
Curated publications
Cancer incidence and the risk for multiple primary cancers in neurofibromatosis type 1.
Neurofibromatosis type 1 and cancer risk
Unmasking NF1 mosaicism: optical genome mapping identifies a novel t(15;17) translocation in melanocytes.
Mosaic neurofibromatosis type 1
Clinical Impact of Germline Multigene Sequencing in Pediatric Cohorts with a Wide Spectrum of Neoplasms.
Childhood cancer predisposition syndromes
Frequently asked questions
How is a NF1-related condition inherited?+
Autosomal dominant
What is the clinical spectrum associated with NF1?+
Café-au-lait macules, neurofibromas, optic pathway glioma, MPNST risk
What is the management associated with NF1?+
Multidisciplinary follow-up; selumetinib (MEK inhibitor) for selected plexiform neurofibromas.
How many Geno'X publications cover the NF1 gene?+
3 publication(s) on NF1 have been selected, summarised and scored by Geno'X on a public grading grid (domains: Constitutional genetics, Cancer genetics).
