Gen family of testicular cancer

Variations or mutations in a gene may be a man increases the risk of the family or inherited testicular germ cell cancer, the most common form of the disease, new research by scientists from the National Institutes of Health. This is only the second gene to identify an influence on the familial risk of testicular cancer, and the first gene in a central pathway. The study appears in July 2009 of cancer research.

Researchers have for years in the suspicion that heredity plays a role in some patients with testicular germ cell cancer, although it tries, a gene with very high impact, so far not focused fruit. Scientists believe that at present, several different genes effects lower - but together - no doubt an influence on the level of familial risk of testicular cancer.

Men with a family member, the embryo of testicular cancer are three to six times more likely than men to develop testicular cancer. Although a family history of testicular cancer probably less than five percent of all cancers of the testicles, the scrutiny of the rare familial cancer cluster has often led to important new understanding of the non-released versions of the same family cancer. It is estimated that 8400 new cases of testicular cancer diagnosed in 2009 with approximately 90% of them as a germ cell tumors, according to data from the National Cancer Institute (NCI).

"This study provides a better understanding of why cancer testicular germ appears, for families," said Raynard Kington, MD, Director of NIH. "The results may also lead to new ways, like men at high risk, as well as real opportunities for prevention and treatment of testicular cancer of germ cells.

The primary routes of this disease is through cyclic AMP, which regulates how cells respond to signals such as hormones. The drug, the route of cyclic AMP are widespread, and in theory, the effects on the progression of testicular cancer.

In this study, Anelia Horvath, PhD, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the laboratory, research and Larissa Kord, MD, NCI, Clinical Genetics, the study of cancer, in the multiple - the cases of testicular cancer families for DNA testing. The NICHD and NCI are part of NIH.

The researchers found seven mutations in the gene in question, PDE11A, the versions of PDE11A enzyme abnormalities slowed enzyme degradation of cyclic AMP.

"The changes are not cancer, but appear for the individual vulnerability for developing a tumor," says the head of the study's authors, Konstantin Stratakis, MD, D.Sc., director of the NICHD the section on endocrinology and genetics. "Nearly one of five families we studied had a variation in the gene, how it works."

For the implementation of research, Stratakis and his colleagues analyzed the DNA of the family of 95 patients with testicular cancer, which the PDE11A gene. They found mutations in seven patients with cancer and found that the speed at which they were found was much higher than in the DNA of people without testicular cancer.

The researchers also had access to the DNA of a group of healthy men who, shielded from endocrine diseases institutions, including the testicles. None of the men, the adverse effects of screening conducted one of the genetic mutations in families of patients with cancer of the testicle. "Because this group did not transfer PDE11A, we were convinced that the transfer had anything to do with testicular cancer," said Korda.

Learning, such as incidents in the PDE11A enzyme lead to an increased risk of a tumor of education can help researchers, other proteins that play a role, said Stratakis. He said that a good place to connect to other proteins in the cyclic AMP path.

"This research is a perfect example of the effectiveness of medical research may be investigating several different disciplines to work together as a team to solve a problem," Kordes said. "This team is the science of its finery, it is the type of research, NIH characterized synergies. "

Stratakis stressed that PDE11A is also in the prostate. He and his colleagues are now seeking, in the frequency of PDE11A mutations in patients with prostate cancer.