Mutated Gene Found in Patients with Most Common Form of Renal Cancer


Renal cancer is among the 10 most common cancers in both men and women in the United States. Renal Cell Carcinoma (RCC) accounts for 90% of kidney cancer cases with clear cell RCC (ccRCC) being the most prevalent subtype. Researchers have found a genetic mutation that occurs in one in three patients with this type of cancer, a finding that is critical to finding treatment for the disease.

Three Genes Responsible for DNA Structure and Function

Researchers from the Wellcome Trust Sanger Institute (UK), the National Cancer Centre of Singapore, and Van Andel Research Institute (VARI) of Grand Rapids, Michigan discovered that a gene called PBRM1 was found to be mutated in 88 cases out of 257 ccRCC cancers analyzed. PBRM1, also known as Baf180, is closely associated with two previously identified renal cancer genes on a small region of chromosome 3.

This team of researchers previously identified the role of the VHL gene and SETD2 in an inherited form of kidney cancer known as sporadic renal cell carcinoma. These three genes are all involved in altering the chromatin structure that holds DNA together and their location allows cancer to reduce the number of genetic events needed to hit and inactivate all three genes.

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Many patients with renal cell carcinoma have at least two mutations of the genes in this region, affecting the processes of cell division and leading to abnormal cellular growth.

“Our discovery of PBRM1 mutations in one in three kidney cancers is a major advance,” says Professor Mike Stratton of the Sanger Institute. “We think we may have almost complete understanding of the set of abnormal genes that drive this cancer. This insight will provide us with many new therapeutic directions.”

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According to the National Cancer Institute, 60,000 Americans were diagnosed with renal cancer in 2010, most often men between the ages of 50 and 70. Survival rates for clear cell renal cell carcinoma can be as high as 95%, but prognosis falls over time as tumors develop. In about half of all cases, the sufferer has no symptoms, delaying diagnosis.

In addition to genetics, smoking is a risk factor for developing the disease.

Source Reference:
Varela I et al. (2010) Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Nature. doi: 10.1038/nature09639