Article

Over-transmission of <i>NF1</i> mutant alleles in Neurofibromatosis type 1

2025-10-10

Abstract excerpt

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant tumor-predisposition syndromes (∼1:3,000 worldwide), caused by pathogenic variants in the NF1 gene. NF1 is clinically diverse, involving pigmentary, skeletal, and neurodevelopmental features, alongside a lifelong risk of benign and malignant tumors. NF1 encodes neurofibromin, a negative regulator of RAS-MAPK signaling, and behaves as a cla...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 5ad9f530-c604-5890-b327-231738fb976b
DOI: 10.1101/2025.10.06.25337162

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Over-transmission of <i>NF1</i> mutant alleles in Neurofibromatosis type 1DOI 10.1101/2025.10.06.25337162Read

Genetic and non-genetic factors influencing phenotypic variability in neurofibromatosis type 1.Semantic proximity Read

A genotype-first approach identifies high incidence of<i>NF1</i>pathogenic variants with distinct disease associationsSemantic proximity Read

Letter: Cancer-independent, second somatic <i>NF1</i> mutation of normal tissues in neurofibromatosis type 1Semantic proximity Read

Cancer-independent somatic mutation of the wild-type NF1 allele in normal tissues in neurofibromatosis type 1.Semantic proximity Read

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associationsSemantic proximity Read

Epidemiology of neurofibromatosis type 1.Semantic proximity Read

Dissecting Clinical Heterogeneity in Neurofibromatosis Type 1Semantic proximity Read

The NF1 somatic mutational landscape in sporadic human cancers.Semantic proximity Read

Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromasSemantic proximity Read

Single-Cell Analysis of <i>NF1</i> -Expressing and <i>NF1</i> -Deficient Schwann and Fibroblast Cells Reveals Divergent Neurofibroma ProgramsSemantic proximity Read

Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype–Phenotype CorrelationsSemantic proximity Read

Tumor and Constitutional Sequencing for Neurofibromatosis Type 1Semantic proximity Read