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Research provides new kidney cancer clues
Date:1/19/2011

Researchers have identified a gene that is mutated in one in three patients with the most common form of renal cancer. The identification of a frequently mutated gene will provide new insights into the biology of the disease. This biological knowledge will be critical in the continued effort to improve treatment for renal cancer.

The gene called PBRM1 was found to be mutated in 88 cases out of 257 clear cell renal cell carcinomas (ccRCC) analysed, making it the most prevalent to be identified in renal cancer for 20 years. The study was carried out by researchers from the Wellcome Trust Sanger Institute, the Van Andel Research Institute, USA, and the National Cancer Centre of Singapore.

The mutations all appear to inactivate a protein which plays a role in remodelling the structure of the genetic material, allowing access of the DNA code to other proteins that can repair damage, control cell growth and turn other genes on and off.

Treating ccRCC is confounded by the fact that tumours can grow in the kidney without symptoms for some time before they are recognised. Survival rates for tumours recognised early in their development can be as high as 95 per cent, but that prognosis falls over time as tumours develop. For many years, the main genetic determinant known to be involved in the development of renal carcinoma was mutation of the VHL gene on chromosome 3.

"Until recently, when we talked about the genetics of renal carcinoma we would inevitably be talking about VHL a gene mutated in eight out of ten patients," says Dr Andy Futreal, Head of Cancer Genetics and Genomics and co-Head of the Cancer Genome Project at the Wellcome Trust Sanger Institute. "But we knew this was likely not to be the full story so the question we have sought to answer is which genes are conspiring with VHL to cause the disease we see in patients?

"Over the last year or so, we have started to assemble that puzzle this research provides a
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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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