Genetic mutation of transforming growth factor beta type II receptor in oral squamous cell carcinoma

Eun Ha Lee, Kyung Jin Bae, Tae Kyu Kim, Hye Seo Park, Eun Ju Lee, Jin Kim

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


Background and aim: The deregulation of transforming growth factor β (TGF-β) action and its signaling function has been a widely accepted concept in carcinogenesis. However, its dual roles, as a tumor suppressor gene and oncogene, have interfered in applying TGF-β signaling to cancer therapeutics. To evaluate its role in the carcinogenesis of oral squamous cell carcinoma (OSCC), we performed mutational analysis of the TGF-β type II receptor (TβRII). Methods: Eighteen cases of OSCC were used for mutational analysis of TβRII. Normal surgical margin, dysplastic lesion, invasive carcinoma and metastatic cancer cells into lymph node tissue were used. Exon-specific spanning primers of exon 1, 2, 3, 4, 5, 6, 7 of TβRII were used for the mutational analysis. Results: A single nucleotide polymorphism (SNP) at the codon 191 was found in 8 cases. The genetic mutations were mainly found in exon 4 through dysplastic areas, carcinoma and metastatic areas, which induced the structural change or the alteration of hydrophobicity of the amino acid. Conclusions:. TβRII mutations occur frequently in exon 4 in OSCC and their functional significance should be proven.

Original languageEnglish
Pages (from-to)82-88
Number of pages7
JournalBasic and Applied Pathology
Issue number3
Publication statusPublished - 2009 Sept

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine


Dive into the research topics of 'Genetic mutation of transforming growth factor beta type II receptor in oral squamous cell carcinoma'. Together they form a unique fingerprint.

Cite this