Neurofibromatosis-1 Gene Mutational Profiles Differ Between Syndromic Disease and Sporadic Cancers.

Alice F BewleyTitilope M AkinweTychele N TurnerDavid H Gutmann

Published in: Neurology. Genetics (2022)

variants in sporadic cancer may be passenger variants or hypomorphic alleles. Further mechanistic studies are warranted to define their unique roles in nonsyndromic cancer pathobiology.

Keyphrases

papillary thyroid
copy number
squamous cell
late onset
childhood cancer
intellectual disability
squamous cell carcinoma
gene expression