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Highly prevalent telomerase reverse transcriptase (TERT) promoter mutations in melanoma

Two independent studies identified highly prevalent mutations upstream of TERT that could help guide the development of new treatments for melanoma. In a family with members diagnosed with melanoma, sequencing studies identified mutations upstream of TERT in all affected individuals. In sporadic melanoma cases, one study identified mutations upstream of TERT in 33% of primary tumors and 85% of metastatic tumors, whereas the second study identified mutations upstream of TERT in 71% of melanoma samples. In cells carrying the mutations, TERT expression was greater than that in cells without such mutations. Next steps include additional studies evaluating the functional consequences of these mutations and the effect of TERT inhibition in this population.

SciBX 6(6); doi:10.1038/scibx.2013.154
Published online Feb. 14, 2013

Findings in both studies unpatented; licensing status not applicable

Huang, F.W. et al. Science; published online Jan. 24, 2013;
doi:10.1126/science.1229259
Contact: Levi A. Garraway, Broad Institute of MIT and Harvard, Cambridge, Mass.
e-mail:

levi_garraway@dfci.harvard.edu

Horn, S. et al. Science; published online Jan. 24, 2013;
doi:10.1126/science.1230062
Contact: Rajiv Kumar, German Cancer Research Center, Heidelberg, Germany
e-mail:

r.kumar@dkfz.de
Contact: Susanne Horn, same affiliation as above
e-mail:

s.horn@dkfz.de
Contact: Dirk Schadendorf, Essen University Hospital, Essen, Germany
e-mail:

dirk.schadendorf@uk-essen.de