Cancer blueprint shows DNA faults
Posted on Thursday, 7th January 2010
A DNA blueprint of kidney cancer has revealed previously unknown faults in the genetic code that may contribute to the disease.
Scientists screened DNA containing more than 3,500 genes from around 100 samples of the most common type of kidney cancer. In more than half the samples, mutations were found in a gene called VHL already known to be linked to clear cell renal carcinoma (ccRCC).
But the researchers also found new evidence of cancer mutations in other genes, three of which were involved in modifying proteins called histones that play a role in gene regulation.
Professor Mike Stratton, from the Wellcome Trust Sanger Institute in Hinxton, Cambridgeshire, where the research was carried out, said: "This extensive mutational screen of clear cell renal cancer has uncovered abnormalities in genes that encode the machinery which determines the structure of chromatin - the three-dimensional environment of proteins that hold DNA.
"This machinery is critical to the fine regulation of transcription of genes into RNA and therefore to the functioning of all cells. We have now shown that several components of the machinery are mutated in cancer and the consequent abnormalities in their function contribute to the development of the disease."
The researchers also found recurrent mutations in the NF2 gene, which codes for an anti-cancer protein.
Unmasking the genetic links to ccRCC will ultimately help in the diagnosis and treatment of the disease, say the scientists, whose work was published in the journal Nature.
Each year renal cell carcinoma accounts for about 209,000 new cases of cancer worldwide and causes 102,000 deaths.
Dr Elizabeth Rapley, from the Institute of Cancer Research, based in London and Sutton, Surrey, said: "This study highlights how systematic studies of cancer genomes can successfully identify new genes that drive cancers and provide valuable insights into the role of genetic subtypes in clinical behaviour.