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Distinct profiles of TERT promoter mutations and telomerase expression in head and neck cancer and cervical carcinoma

International Journal of Cancer May 11, 2018

Annunziata C, et al. - Two recurrent mutations (–124 G > A and -146 G > A) in the core promoter region of the human telomerase reverse transcriptase (TERT) gene create consensus binding sites for ETS transcription factors and cause increased TERT expression in several tumor types. Therefore, researchers analyzed TERT promoter mutations and TERT mRNA levels in head and neck cancer, cervical carcinoma and cervical intraepithelial neoplasia (CIN) as well as in C-4I, CaSki, HeLa and SiHa cervical cell lines. A relevant role is played by TERT promoter mutations in oral squamous cell carcinoma (SCC) as well as in cervical SCC, in addition to the already known impact of HPV16 E6 protein on TERT expression. In both cervical and oral cancer, the frequency of mutations was found to be independent of human papillomavirus tumor status.

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