ArticleAmerican journal of human genetics2000
Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 83 citations in OpenAlex.
- The genotypic and family characteristics and clinical intervention of neurofibromatosis type 1 gene are associated with dystrophic scoliosis by whole-exome sequencing.Frontiers in neurology · 2025Article
- Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and RecurrentGenes · 2022Article
- Treatment of malignant peripheral nerve sheath tumors in pediatric NF1 disease.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Review
- Article
- Epigenomic Reordering Induced by Polycomb Loss Drives Oncogenesis but Leads to Therapeutic Vulnerabilities in Malignant Peripheral Nerve Sheath Tumors.Cancer research · 2019Article
- The molecular landscape of glioma in patients with Neurofibromatosis 1.Nature medicine · 2019Article
- Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1.Journal of human genetics · 2016Article
- The NF1 gene revisited - from bench to bedside.Oncotarget · 2014Review
- Skin-derived precursor cells as an in vitro modelling tool for the study of type 1 neurofibromatosis.Stem cells international · 2012Article
- The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas.Neurogenetics · 2009Article
- Somatic alterations of the NF1 gene in an NF1 individual with multiple benign tumours (internal and external) and malignant tumour types.Familial cancer · 2007Article
- Patterns of associations of clinical features in neurofibromatosis 1 (NF1).Human genetics · 2003Article
- Fluorescence in situ hybridization (FISH) in diagnostic and investigative neuropathology.Brain pathology (Zurich, Switzerland) · 2002Review
- Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene.American journal of human genetics · 2001Article
- Diagnosis and management of neurofibromatosis type 1.Current neurology and neuroscience reports · 2001Review
- An isochore transition in the NF1 gene region coincides with a switch in the extent of linkage disequilibrium.American journal of human genetics · 2000Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neurofibromatosis type 1 (NF1), a common autosomal dominant disorder caused by mutations of the NF1 gene, is characterized by multiple neurofibromas, pigmentation anomalies, and a variety of other possible complications, including an increased risk of malignant neoplasias. Tumorigenesis in NF1 is believed to follow the two-hit hypothesis postulated for tumor-suppressor genes. Loss of heterozygosity (LOH) has been shown to occur in NF1-associated malignancies and in benign neurofibromas, but only few of the latter yielded a positive result. Here we describe a systematic approach of searching for somatic inactivation of the NF1 gene in neurofibromas. In the course of these studies, two new intragenic polymorphisms of the NF1 gene, a tetranucleotide repeat and a 21-bp duplication, could be identified. Three tumor-specific point mutations and two LOH events were detected among seven neurofibromas from four different NF1 patients. Our results suggest that small subtle mutations occur with similar frequency to that of LOH in benign neurofibromas and that somatic inactivation of the NF1 gene is a general event in these tumors. The spectrum of somatic mutations occurring in various tumors from individual NF1 patients may contribute to the understanding of variable expressivity of the NF1 phenotype.
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