Mutated Gene Appears in One of Three Kidney Cancer Patients

Scientists have pinpointed a gene (PBRM1) that is mutated in approximately one out of three patients with clear cell renal cell carcinoma (ccRCC), the most common form of kidney cancer.

The finding may give new insight into the disease's biology and lead to more effective treatments.

Treatment of ccRCC is generally effective if caught early. Unfortunately, tumours can grow in the kidney without symptoms for some time before they are diagnosed. These symptoms can include blood in the urine, persistent back pain just below the ribs, weight loss, fatigue and intermittent fever, according to the Mayo Clinic.

PBRM1 was identified as mutated in 88 out of 257 cases of ccRCC. These mutations all appear to inactivate a protein that helps restructure the genetic material. This restructuring allows other proteins to repair damage, control cell growth and turn other genes on and off.

The newly discovered gene, PBRM1, acts as part of a protein complex (SWI-SNF), which also functions to alter the structure of chromatin (the scaffold that holds the DNA together in our cells).

Researchers initially sought to answer which genes conspire with VHL (a gene mutated in eight out of ten patients) to cause the disease. The finding gives more credence to the importance of genome regulation in kidney cancer.