科研之友
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摘要
Purpose: There are a growing number of reports suggesting that the aberrant expression and mutation of the thyroid hormone receptor beta 1 (TR beta 1) gene is associated with the development of human neoplasms. However, its exact role in the pathogenesis of breast cancer remains elusive. In the present study, we analyzed the mRNA expression and mutations of the TR beta 1 gene in the Chinese breast cancer population. Methods: The expression of TR beta 1 mRNA was examined by real-time quantitative reverse transcription polymerase chain reaction, and mutations in the TR beta 1 gene in the hotspot region that spans exons 7-10 were analyzed by polymerase chain reaction single-strand conformation polymorphism and automated DNA sequencing. Results: TR beta 1 mRNA expression was significantly reduced in all 105 breast cancer specimens examined. A total of 20 samples showed truncating mutations within the exons 7-10 of the TR beta 1 gene, where eight cases harbored a frame shift mutation (five cases of c.850insA in exon 7 and three cases c.1028delA in exon 8), whereas missense mutations were observed in 12 breast cancer cases. The 20 cases with mutation in the TR beta 1 gene showed a reduction in TR beta 1 mRNA expression compared with that observed in matched normal tissues. The mutation was also correlated with menopausal stage and estrogen receptor status. Conclusion: The findings of the present study suggest that the aberrant expression and mutations of the TR beta 1 gene are associated with the development of breast cancer and that the-mutations in the TR beta 1 gene partly serve as the underlying mechanism for TR beta 1 inactivation in the Chinese breast cancer population.
- 出版日期2015
- 单位兰州大学; 中国人民解放军兰州军区兰州总医院
