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According to a recent article published in The Lancet, specific genetic mutations may account for nearly one-third of all bladder cancers. With the emerging role of gene expression profiling in the clinical setting of oncology, these findings may lead to promising outcomes in the future.

The bladder is an organ in the lower abdomen that stores urine after it is released from the kidneys until it is passed out of the body. Bladder cancer is the fifth most common type of cancer in the United States and causes approximately 13,000 deaths annually. Bladder cancer occurs predominantly in elderly men and less frequently in women and younger men. Cure rates remain high for bladder cancer that is detected and treated early?prior to spread from its site of origin. Cure rates fall dramatically, however, if the cancer is detected at a more advanced stage. Therefore, the identification of individuals at a higher risk of developing the disease may assist in early detection and provide optimal chances of a cure. As knowledge regarding the practical application of genetics moves forward in the medical arena, the identification of specific genetic mutations that place an individual at a higher risk of a specific cancer may allow for appropriate screening.?

A recent clinical study conducted by researchers affiliated with the National Cancer Institute and researchers in Spain attempted to identify specific genetic mutations associated with a higher rate of developing bladder cancer. This study included nearly 2,300 individuals; approximately half had been diagnosed with bladder cancer and half had never been diagnosed with the disease. Overall, the researchers identified that mutations in the gene referred to as GSTM1 carried a significantly increased risk of developing bladder cancer, even in non-smokers. In addition, researchers identified that mutations in the gene referred to as NAT2 carried a significantly increased risk of developing bladder cancer among smokers.

The researchers concluded that, although further testing is necessary to apply these results in the clinical setting, mutations with the GSTM1 and NAT2 genes could account for nearly one-third of all bladder cancers. In the future, individuals who are at a high risk due to these genetic mutations may benefit from close screening for bladder cancer. Patients who are smokers (a known risk factor for developing bladder cancer) or those who have a family history of bladder cancer may wish to speak with their physician regarding the risks and benefits of participating in a clinical trial further evaluating genetics of the disease or other screening/prevention measures. Sources of information regarding ongoing clinical trials include the National Cancer Institute (

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Reference: Garcia-Closas M, Malats N, Silverman D, et al. NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analyses. The Lancet. 2005; 366:649-659.

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