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Updated: May 1, 2026
Deciphering the Structural Effects of Activating EGFR Somatic Mutations with Molecular Dynamics Simulation
Published on: May 20, 2020
Epidermal growth factor receptor (EGFR) mutations as biomarker for head and neck squamous cell carcinomas (HNSCC)
K Nagalakshmi1, Kaiser Jamil, Usharani Pingali
1Genetics Department, Bhagwan Mahavir Medical Research Centre , Hyderabad, Andhra Pradesh , India .
Context:
Mutations in tyrosine kinase domain (TK) of epidermal growth factor receptor (EGFR) lead to signalling interruptions in several cancers.
Objective:
To understand EGFR mutations in head and neck squamous cell carcinomas (HNSCC), and their role as biomarkers.
Methods:
Screened 129 HNSCC patients and 150 controls for mutations in the TK domain using polymerase chain reaction (PCR), single strand confirmatory polymorphism (SSCP) and sequencing.
Results:
81.39% of HNSCC had four mutations: G2155C, G2176A, C2188G and G2471A among these two mutations were also reported in other cancers where as two novel mutations are being reported for the first time in HNSCC. Mutational frequency was significantly associated with an advanced stage of HNSCC, habits of tobacco/alcohol and ages above 49 years.
Conclusion:
EGFR single nucleotide polymorphisms could be useful biomarkers of HNSCC.
Insights
EGFR mutations in head and neck squamous cell carcinomas (HNSCC) were identified, with some novel findings. These genetic alterations may serve as valuable biomarkers for HNSCC detection and progression.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Mutations in the tyrosine kinase (TK) domain of the epidermal growth factor receptor (EGFR) disrupt cellular signaling pathways.
- These disruptions are implicated in the development and progression of various cancers.
Purpose of the Study:
- To investigate the spectrum of EGFR mutations within the TK domain in head and neck squamous cell carcinomas (HNSCC).
- To evaluate the potential of these EGFR mutations as diagnostic or prognostic biomarkers for HNSCC.
Main Methods:
- Genomic DNA was extracted from 129 HNSCC patients and 150 healthy controls.
- Polymerase chain reaction (PCR), single-strand conformation polymorphism (SSCP), and DNA sequencing were employed to screen for mutations in the EGFR TK domain.
Main Results:
- Four specific mutations (G2155C, G2176A, C2188G, G2471A) were identified in 81.39% of HNSCC cases.
- Two of these mutations represent novel findings in HNSCC, while the other two have been previously reported in other cancer types.
- The frequency of these EGFR mutations showed a significant association with advanced HNSCC stage, tobacco and alcohol consumption, and age over 49 years.
Conclusions:
- Single nucleotide polymorphisms (SNPs) in the EGFR gene are prevalent in HNSCC.
- EGFR mutations demonstrate potential utility as biomarkers for HNSCC.
