Another Genetic Link to Testicular Cancer Is Found

Discovery may help explain why disease runs in families

THURSDAY, July 2, 2009 (HealthDay News) -- A second gene linked to inherited testicular germ-cell cancer has been identified by scientists at the U.S. National Institutes of Health.

"This study contributes to our understanding of why testicular germ-cell cancer appears to run in families," Dr. Raynard Kington, acting NIH director, said in an agency news release. "The findings may also lead to new ways to identify men at high risk, as well as more effective ways to prevent and treat testicular germ-call cancer."

The U.S. National Cancer Institute estimates that 8,400 men will be diagnosed with testicular cancer this year, and that about 90 percent of the cases will be germ-cell cancers.

For the study, the scientists analyzed DNA from 95 familial testicular cancer patients and found seven different mutations in a gene called PDE11A. Healthy men did not have the mutations.

"The mutations don't cause cancer directly, but instead appear to increase an individual's susceptibility to developing a tumor," the study's senior author, Dr. Constantine Stratakis, chief of the endocrinology and genetics section at the National Institute of Child Health and Human Development, said in the news release.

The PDE11A gene is located in a key biochemical pathway in testicular germ-cell cancer, the cyclic AMP pathway, which regulates how cells respond to such signals as hormones. Drugs that affect the AMP pathway are widely available and, in theory, may help slow progression of testicular cancer.

Learning more about how mutations in PDE11A affect testicular cancer risk could help scientists identify other proteins that also play a role in the disease, Stratakis said.

The study is in the July issue of Cancer Research.

PDE11A is also highly expressed in the prostate gland, so Stratakis and colleagues are now studying the frequency of PDE11A mutations in men with prostate cancer.

More information

The American Cancer Society has more about testicular cancer.

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