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Unraveling kidney cancer
Date:1/6/2010

d previously identified mutations in UTX, another gene controlling histone activity.

"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," says Professor Mike Stratton, co-leader of the Cancer Genome Project at the Wellcome Trust Sanger Institute. "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."

Strikingly, even though ccRCC is a particularly homogeneous cancer type both pathologically and genetically, none of the additional mutations identified accounted for more than five per cent of cases. These results exemplify the genetic complexity of human cancer and provide the further impetus for the design of studies to more fully delineate complete catalogues of the genes implicated in human cancer.

The researchers also identified somatic mutations in the gene NF2 in the particular subset of ccRCC which appear to not be driven by VHL mutation. NF2 was previously known to be involved in hereditary cancers affecting primarily the nervous system.

Following the initial survey of 101 samples, the researchers examined those genes found to be mutated in a further 300 samples to further clarify the potential importance of mutations in ccRCC.

"Systematic genetic analyses have the power to unmask previously unknown drivers in human cancer and the biology they impact", says Dr Bin Teh, Head of the Laboratory of Cancer Genetics at the Van Andel Research Institute, Grand Rapids, Michigan, USA. "Such knowledge is critical to improvements in the diagnosis and treatment of cancer."

Delineation of the
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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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