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November 11, 2025FEBS Open BioOpen Access

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐ NF1 patients and role of R1276

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Authors

MSMareike SeligSLSwanhild LohseSESara Elahi

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Overview

Genetic analysis reveals pathogenic Neurofibromatosis type 1 mutations in solid tumors, indicating implications for screening and counseling.

Key Points

  • This research aims to explore pathogenic Neurofibromatosis type 1 variants in tumors of non-NF1 patients.
  • Data collection from 63 patients for NF1 gene sequencing
  • Detection of 72 NF1 variants, with 32% classified as pathogenic
  • Focus on tumor types like lung cancer, glioma, melanoma, and sarcoma
  • Examination of common recurrent variants and their predictive qualities
  • 32% of detected variants were pathogenic, primarily in malignant melanoma and glioma
  • Higher frequency of truncating mutations compared to previous reports
  • Requirement of multitissue sampling to recognize NF1 mosaicism

Cite This Study

Selig et al. (2025) studied this question.

synapsesocial.com/papers/69252ea3c0ce034ddc3568cdhttps://doi.org/10.1002/2211-5463.70157
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1PATH-81. DNA sequencing identifies NF1 variant classes associated with malignant peripheral nerve sheath tumor (MPNST) formation in neurofibromatosis type I2025
  2. 2Comprehensive Analysis of Genotype-Phenotype Correlations and Pathogenic Mechanisms in Neurofibromatosis Type 12026
  3. 3Refined genotype–phenotype correlations in neurofibromatosis type 1 patients with <i>NF1</i> point variants2025 · 7 citations
  4. 4Neurodevelopmental Comorbidities and Novel Population-based Mutations in Ethnic Patients with Neurofibromatosis Type 12025
  5. 5A case of neurofibromatosis type 1 caused by a novel NF1 mutation2026