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Unraveling kidney cancer
Date:1/6/2010

In a new study, scientists have searched for mutations in the gene regions of more than 100 kidney cancer samples, the largest number of samples from a single tumour type to be sequenced to date.

Clear cell renal cell carcinoma (ccRCC) is the most common type of kidney cancer, with 102,000 deaths worldwide each year. It is noteworthy because its pathology all the visible clues to its nature is remarkably consistent and the majority of cases are known to be driven, at least in part, by mutations in a single gene, VHL. In this study, the team looked for mutations in 3544 genes in 101 cases of ccRCC to begin to investigate the complexity within this reasonably homogeneous cancer type.

"ccRCC has such a strong genetic signature, with the VHL gene undergoing mutation in more than 50 per cent of samples," explains Dr Andy Futreal, co-leader of the Cancer Genome Project at the Wellcome Trust Sanger Institute. "It also has a strong pathological signature, with a homogeneous appearance in most cases.

"We also know that there are very few examples of known 'cancer genes' being mutated in ccRCC, making it a very interesting tumour to explore the contribution of novel genes in human cancer and thus provide opportunities to more fully understand the processes that can be subverted to drive cancer."

As well as finding mutations in more than half of the cases examined in the VHL gene previously known to be important in ccRCC, the researchers found evidence for additional mutations in other genes. In particular, they showed that two genes implicated in modulating structural control of gene expression on a genome-wide level had acquired inactivating mutations in ccRCC. These genes, JARID1C and SETD2, encode proteins that move modifying signatures on and off proteins known as histones, which are critical in packaging the DNA thus controlling gene activity. These mutations further elaborate on a theme in ccRCC this team of researchers ha
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Contact: Don Powell
press.officer@sanger.ac.uk
44-122-349-6928
Wellcome Trust Sanger Institute
Source:Eurekalert  

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Unraveling kidney cancer
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