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Identification of genetic alterations in the TGFbeta type II receptor gene promoter

E R Seijo1, H Song, M A Lynch

  • 1Department of Oncology, H. Lee Moffitt Cancer Center & Research Institute, University of South Florida, 12902 Magnolia Drive, Tampa, FL 33612, USA.

Mutation Research
|October 16, 2001
PubMed

Insights

Genetic alterations in the tumor suppressor gene TGFbeta type II receptor (TbetaR-II) promoter were investigated in head and neck cancer. The study found common promoter alterations, but they were also present in healthy individuals, suggesting they don't cause decreased TbetaR-II expression in tumors.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Tumor suppressor gene modifications, like promoter hypermethylation and polymorphisms, can impact gene expression and contribute to tumorigenesis.
  • Decreased expression of the TGFbeta type II receptor (TbetaR-II) is linked to increased tumorigenicity in various human cancers.
  • While coding region alterations in TbetaR-II are known, a comprehensive analysis of its promoter region in head and neck squamous cell carcinoma (SqCC) was lacking.

Purpose of the Study:

  • To investigate genetic alterations within the 1.0kb promoter region of the TbetaR-II gene in head and neck squamous cell carcinoma (SqCC).
  • To determine if identified promoter alterations correlate with decreased TbetaR-II expression and contribute to tumorigenesis in head and neck SqCC.

Main Methods:

  • Analysis of the 1.0kb upstream region of the TbetaR-II transcriptional start site in SqCC samples.
  • Identification and frequency analysis of genetic alterations, particularly the G-875-A alteration.
  • Comparison of alteration frequencies in SqCC samples versus normal healthy individuals.

Main Results:

  • Genetic alterations were found in 46% of the examined head and neck SqCC samples.
  • The most prevalent alteration was G-875-A, observed in 41.6% of SqCC samples.
  • The G-875-A alteration showed a similar frequency in normal healthy individuals, indicating it is not specific to SqCC.

Conclusions:

  • Alterations within the TbetaR-II promoter region are common in the general population.
  • The high frequency of the G-875-A alteration in both SqCC and healthy individuals suggests it is unlikely to be the primary cause of decreased TbetaR-II expression in head and neck SqCC.
  • Further research is needed to identify the specific mechanisms responsible for reduced TbetaR-II expression in head and neck tumors.

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