To conduct the research, Stratakis and his colleagues analyzed the portion of the DNA from 95 familial testicular cancer patients that contains the PDE11A gene. They found seven mutations in the cancer patients, and noted that the rate at which they were detected was much higher than that seen in the DNA of people without testicular cancer.

The researchers also had access to the DNA of a group of healthy men, who had been screened for diseases of the endocrine organs, including the testicles. None of the men who screened negative carried any of the genetic mutations identified in the familial testicular cancer patients. "Because this group had no mutations in PDE11A, we were more confident that the mutations had something to do with testicular cancer," said Korde.

Learning how disruptions in the PDE11A enzyme lead to an increased risk of tumor formation may help researchers identify other proteins that also play a role, Stratakis said. He indicated that a good place to look is among other proteins in the cyclic AMP pathway.

"This research is a perfect example of how effective medical research can be when investigators from multiple, different disciplines work together as a team to solve a problem," said Korde. "This is team science at its best; it represents the kind of research synergy at which NIH excels."

Stratakis noted that PDE11A is also highly expressed in the prostate gland. He and his colleagues are now undertaking the research to find the frequency of PDE11A mutations in patients with prostate cancer.

The NICHD sponsors research on development, before and after birth; maternal, child, and family health; reproductive biology and population issues; and medical rehabilitation.

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