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Molecular Analysis of Endothelial-mesenchymal Transition Induced by Transforming Growth Factor-β Signaling
Published on: August 3, 2018
Mutation analysis of transforming growth factor beta type II receptor, Smad2, Smad3 and Smad4 in esophageal squamous
1First Department of Surgery, Gunma University School of Medicine, Gunma, Japan.
Abstract:
Mutations of the transforming growth factor beta type II receptor (TGFbetaRII) gene and Smad family genes have been observed in several human cancers. However, there has been no report on mutation analysis of the entire coding regions of these genes in esophageal cancer, and the role of these genes in the development of esophageal cancer remains unknown. We performed polymerase chain reaction-single strand conformation polymorphism analysis of TGFbetaRII, Smad2, Smad3 and Smad4 genes and microsatellite assay in 20 esophageal squamous cell carcinomas (ESCC). We detected polymorphisms at exon 2 of Smad3 and intron 6 of Smad4. No mutation was found in TGFbetaRII, Smad2, Smad3 and Smad4 genes. These results suggest that mutation of TGFbetaRII, Smad2, Smad3 and Smad4 genes is a rare event in ESCC.
Insights
Mutations in TGFbetaRII and Smad genes are rare in esophageal squamous cell carcinoma (ESCC). This study found no mutations in these key cancer-related genes in ESCC samples.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Transforming growth factor beta type II receptor (TGFbetaRII) and Smad family genes are implicated in various human cancers.
- The role of these genes in esophageal cancer development is largely unknown.
- Previous studies have not analyzed the entire coding regions of these genes in esophageal cancer.
Purpose of the Study:
- To investigate mutations in the transforming growth factor beta type II receptor (TGFbetaRII) and Smad2, Smad3, and Smad4 genes in esophageal squamous cell carcinoma (ESCC).
- To determine the potential role of these genes in the pathogenesis of ESCC.
Main Methods:
- Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis was used to examine the coding regions of TGFbetaRII, Smad2, Smad3, and Smad4 genes.
- Microsatellite assay was employed to detect genetic alterations.
- The study included a cohort of 20 esophageal squamous cell carcinoma (ESCC) samples.
Main Results:
- No mutations were detected in the transforming growth factor beta type II receptor (TGFbetaRII), Smad2, Smad3, or Smad4 genes in the analyzed ESCC samples.
- Polymorphisms were identified in exon 2 of Smad3 and intron 6 of Smad4.
- These findings indicate a lack of coding region mutations in these specific genes within the studied ESCC cohort.
Conclusions:
- Mutations in the TGFbetaRII, Smad2, Smad3, and Smad4 genes appear to be infrequent events in the development of esophageal squamous cell carcinoma (ESCC).
- Further research may be needed to explore other genetic or epigenetic alterations contributing to ESCC pathogenesis.
