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Characterize Disease-related Mutants of RAF Family Kinases by Using a Set of Practical and Feasible Methods
Published on: July 17, 2019
Evaluation of EGFR, KRAS and BRAF gene mutations in renal cell carcinoma
Omer Bayrak1, Haluk Sen1, Ersan Bulut1
1Department of Urology, Department of Physiology, Department of Pathology, University of Gaziantep, Gaziantep, Turkey; Department of Medical Genetics, University of Gazi, Ankara, Turkey.
Abstract:
A subset of renal cell carcinoma (RCC) patients has been shown to respond to anti-EGFR therapy. As KRAS and BRAF mutations are associated with poor response to anti-EGFR therapy in some cancers, it has been suggested that screening for KRAS and BRAF mutations in RCC may be a promising strategy to identify patients who might respond to EGFR-targeted therapy. The aim of this study was to investigate the mutation status of EGFR, KRAS and BRAF in RCC patients. Renal tumors and normal renal samples from forty-eight patients who underwent radical or partial nephrectomy for kidney cancer were used in this study. Histological classification of the tumors was performed according to International Union against Cancer (UICC) / American Joint Committee on Cancer (AJCC) classification. Seventeen patients (48%) had clear-cell RCC, 7 (20%) had chromophobe RCC, and 11 patients (32%) had papillary RCC. DNA isolated from the samples was subjected to melting curve mutation analysis for EGFR, BRAF and KRAS using ABI-3130 DNA sequencer. DNA sequencing analysis of RCC samples, when compared with morphologically normal matched regions, did not show any exon mutations. Our results do not support the notion that EGFR, KRAS and BRAF might be mutated in RCC.
Insights
This study investigated mutations in EGFR, KRAS, and BRAF genes in renal cell carcinoma (RCC) patients. Researchers found no evidence of these specific mutations in RCC tumors, suggesting they may not be relevant biomarkers for anti-EGFR therapy response in this cancer.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Anti-epidermal growth factor receptor (EGFR) therapy shows promise in a subset of renal cell carcinoma (RCC) patients.
- KRAS and BRAF mutations are linked to poor anti-EGFR therapy response in other cancers, prompting investigation in RCC.
Purpose of the Study:
- To determine the mutation status of EGFR, KRAS, and BRAF in patients with renal cell carcinoma.
- To assess the potential of these mutations as biomarkers for predicting response to EGFR-targeted therapy in RCC.
Main Methods:
- Analysis of renal tumor and normal tissue samples from 48 RCC patients.
- Histological classification of RCC subtypes (clear-cell, chromophobe, papillary).
- Melting curve mutation analysis and DNA sequencing for EGFR, KRAS, and BRAF mutations.
Main Results:
- No exon mutations in EGFR, KRAS, or BRAF were detected in the analyzed RCC samples.
- The study did not find evidence supporting the presence of these mutations in renal cell carcinoma.
Conclusions:
- The investigated mutations (EGFR, KRAS, BRAF) do not appear to be prevalent in renal cell carcinoma.
- These findings suggest that screening for EGFR, KRAS, and BRAF mutations may not be a useful strategy for identifying RCC patients who would benefit from anti-EGFR therapy.
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