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Updated: Jul 11, 2026

Cell Population Analyses During Skin Carcinogenesis
Published on: August 21, 2013
[Metastatic basal cell carcinoma with a SMO gene mutation. A case report]
N P Zverev1, A A Lyakhovets1, I L Plaksa2,3
1I.P. Pavlov Ryazan State Medical University of the Ministry of Health of Russia, Ryazan, Russia.
Abstract:
The authors describe a clinical case of a patient with metastatic basal cell carcinoma and secondary resistance to vismodegib. A SMO G416E mutation of unknown clinical significance was found in the gene encoding the transmembrane receptor protein Smoothened (SMO) protein, which suggests a defect in the Sonic Hedgehog (SH) pathway and may cause tumor resistance to the prescribed drug. Comprehensive genomic profiling and in silico analysis have been used to diagnose the tumor.
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