“FGFR4 p.Gly388Arg Mutations in PBMCs of LAM Patients: A Potential Systemic Driver of Neoplastic-like Behaviour”

Abstract excerpt

Lymphangioleiomyomatosis (LAM) is a rare, progressive lung disease with neoplastic traits, primarily driven by mutations in the TSC2 gene, which lead to hyperactivation of the mTOR pathway and uncontrolled cell growth. However, additional mutations may contribute to disease progression. In this study, we investigate the potential role of co-mutations, focusing on the FGFR4 p.Gly388Arg polymorphism, which has previ...

Topics

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• Cell-Free Nucleic Acids
• DNA-Binding Proteins
• Genetic Association Studies
• Lung
• Lung Neoplasms
• Mutation
• Transcription Factors
• Tuberous Sclerosis Complex 2 Protein

Identifiers and source

Literature Corpus work

7e286491-3770-514b-b4c0-6a89be9131c9

DOI

10.1101/2024.11.05.24316663