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Genetic clue to kidney cancer

24 January 2011
Appeared in BioNews 592

Scientists have identified a gene mutation that is linked to a third of kidney cancers.

Researchers compared the genes in cancer cells with those in normal tissue in a small number of patients, before going on to look at a larger group of kidney cancer patients. Mutations in a gene, PBRM1, were present in 34 percent of the 257 kidney cancer cases studied. All the patients who had a mutation in PBRM1 had renal cell carcinoma, the most common type of kidney cancer.

Kidney cancer is one of the ten most common cancers and caused nearly 4,000 deaths in the UK in 2008. Early detection and treatment greatly improves the chance of surviving kidney cancer, which often remains undetected due to a lack of early symptoms.

Dr Elizabeth Rapley, from the Institute of Cancer Research, told the BBC: ‘This cancer has a poor prognosis with fewer than 50 percent of patients surviving their disease for more than five years. The research provides a better and more complete picture of the genetic changes needed for renal cancer to develop’.

The protein produced by PBRM1 is involved in packaging DNA, but it is not known how the faulty protein makes the cell more likely to become cancerous. Better understanding of mutations in genes, such as PBRM1, which are involved in the early stages of kidney cancer, could lead to improved screening, early diagnosis and the development of new drugs.

The research was published in the journal Nature.

Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma
Nature |  19 January 2011
Faulty gene linked to more than a third of kidney cancers
Telegraph |  21 January 2011
Genetic clue to kidney cancer
NHS Choices |  20 January 2011
Kidney cancer linked to mutated gene
BBC News |  19 January 2011
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