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Published on: September 8, 2023

Mutational analysis of the transforming growth factor beta receptor type I gene in primary non-small cell lung cancer

Hong-Tao Zhang1, Qing-Yan Fei, Feng Chen

  • 1Laboratory of Population and Quantitative Genetics, The State Key Laboratory of Genetic Engineering, Institute of Genetics, Morgan-Tan International Center for Life Sciences, Fudan University, Shanghai 200433, P.R. China.

Lung Cancer (Amsterdam, Netherlands)
|June 5, 2003
PubMed

Insights

Transforming growth factor-beta receptor type I (TGFbetaRI) gene mutations are rare in non-small cell lung cancer (NSCLC). However, a specific TGFbetaRI polymorphism significantly increases NSCLC risk.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Transforming growth factor-beta receptor-dependent signals regulate cell growth and differentiation.
  • Disruptions in these signals are implicated in tumorigenesis, particularly in non-small cell lung cancer (NSCLC).

Purpose of the Study:

  • To investigate alterations in the TGFbetaRI gene in primary NSCLC tissues.
  • To determine the association between a specific TGFbetaRI gene polymorphism and NSCLC risk.

Main Methods:

  • Analysis of the entire coding region and flanking introns of the TGFbetaRI gene in 53 NSCLC tissues using SSCP and direct sequencing.
  • Genotyping of a TGFbetaRI intron 7 polymorphism (G to A) in 53 NSCLC cases and 89 normal controls.

Main Results:

  • No somatic point mutations were identified in the TGFbetaRI coding region, except for two silent mutations.
  • A polymorphism at the 24th base of intron 7 (G to A) was identified.
  • Homozygous genotype A/A for this polymorphism was associated with a greater than 3-fold increased risk of developing NSCLC compared to the wild genotype G/G.

Conclusions:

  • The TGFbetaRI gene is not a frequent site of spontaneous mutational inactivation in NSCLC.
  • The identified TGFbetaRI intron 7 polymorphism is frequent and may play a role in NSCLC pathogenesis.

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