Cancer-genome sequencing has yielded a long list of potential cancer-causing mutations, most of which are in genes that code for proteins. But two studies of melanoma genomes have revealed common mutations in a region that regulates gene expression.
Dirk Schadendorf of the University Hospital Essen in Germany, Rajiv Kumar of the German Cancer Research Center in Heidelberg and their colleagues conducted a genetic analysis of 14 members of a family that is prone to the skin cancer. The authors found mutations in a region that regulates the expression of a gene called TERT. Another group led by Levi Garraway at the Dana-Farber Cancer Institute in Boston, Massachusetts, found mutations in the same promoter region in 50 out of 70 melanomas. The results suggest that regulatory regions of the genome may be key reservoirs of cancer-causing mutations.
Rights and permissions
About this article
Cite this article
Mutations lurk in regulatory regions. Nature 493, 581 (2013). https://doi.org/10.1038/493581a
Published:
Issue Date:
DOI: https://doi.org/10.1038/493581a
