Testicular cancer gene found

Katherine Nathanson, an assistant professor at Penn's School of Medicine, describes testicular cancer as "an interesting cancer" because of its increasing incidence, its heritability and its overwhelming prevalence within a single age and race.

Although potential funders have questioned the rationale of studying a relatively rare disease that has a cure, Nathanson has stood by her research.

It turns out that tenacity paid off. Nathanson and her co-author, Epidemiology assistant professor Peter Kanetsky, have found a gene series that is coupled with a highly increased risk of developing testicular cancer.

The research shows that men with two copies of the common version of a gene known as c-KIT ligand have a 4.5 times greater risk than men with two copies of the less common version of the c-KIT ligand gene.

The findings also demonstrates that if the common version is next to a gene known as sprouty 4, the risk is 1.48 times greater than when there are two copies of the less common version of the gene.

The discovery is the first of its kind because no other major genetic risk factor has been linked to testicular cancer.

The results are also notable because the common variant is correlated with a higher susceptibility of disease, according to Nathanson.

"In most studies, the increased risk of disease is associated with the less common variant of the gene," Nathanson explained in a statement relseased by the medical school. "In this case, it is the more common variant in Caucasians that is associated with risk. If you carry two copies of the less common variant you are probably at incredibly low risk."

The study's findings are seen as "the first step toward understanding which men are at high risk of disease", according to the statement.

Saran Vardhanabhuti, a second year doctoral candidate in Biostatistics who has worked on the research since last summer, said that pinpointing the genes is "just the beginning of the process of looking for the cure."

The next challenge, Vardhanabhuti explained, is figuring out how the gene works and how to modify it.

Nathanson said she and Kanetsky are "definitely taking it further," and they plan to continue their work in the future.

Subsequent studies will increase sample sizes, use mouse models and perform surveys, Nathanson and Kanetsky said.

Through this research, they said they hope to learn more about environmental factors, locate associated genes and figure out the mechanism that links these genes to testicular cancer.

Another area of further study includes exploring theories linking testicular cancer to infertility and male germ cell development.

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