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TERT promoter mutations and telomerase reactivation in urothelial cancer

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Science  27 Feb 2015:
Vol. 347, Issue 6225, pp. 1006-1010
DOI: 10.1126/science.1260200

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The downstream effects of false promotion

Special DNA sequences at the ends of chromosomes, called telomeres, are replenished by a dedicated enzyme called telomerase. A subset of human tumors harbors mutations in the promoter region of the TERT gene, which codes for a subunit of telomerase. Borah et al. explored the downstream effects of TERT promoter mutations in cells derived from urothelial (urinary tract) cancers. The mutations were associated with aberrantly high levels of TERT mRNA, TERT protein and telomerase activity, and longer telomeres. A small study of clinical samples suggested that high levels of TERT mRNA may be a marker of more aggressive urothelial cancers.

Science, this issue p. 1006