Study uncovers new insight on inherited testicular cancer risk

Research helps identify genetic factors that leave men at highest risk of developing testicular cancer.

By Amy Wallace
New research sheds light on inherited testicular cancer risk in men. Photo by Unsplash/PixaBay
New research sheds light on inherited testicular cancer risk in men. Photo by Unsplash/PixaBay

June 12 (UPI) -- An analysis of five major studies has identified new genetic locations that may cause men to have the highest risk of developing testicular cancer.

Researchers from The International Testicular Cancer Consortium, or TECAC, analyzed five major studies and found new genetic locations that could be susceptible to inherited testicular germ cell tumors, which may help doctors understand which men are at the highest risk of developing the disease.


Germ cell tumors account for 95 percent of testicular cancer cases and are the most common cancer in white men between age 20 and 39 in the United States and Europe. The number of cases has risen continuously during the last 20 years.

Although there is significant evidence that germ cell tumor susceptibility is hereditary, researchers had not been able to find a mutant high penetrance gene that increases risk.

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However, genome-wide association studies, or GWAS, used to identify common variations linked to disease risk, are effective.

Dr. Katherine L. Nathanson, professor of Translational Medicine and Human Genetics at the Perelman School of Medicine at the University of Pennsylvania, used a method to find locations on chromosomes, known as loci, using the GWAS method.


Researchers combined data from five international GWAS of testicular germ cell tumors.

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"With this analysis, we've identified eight new loci in previously unknown regions" Nathanson said. "We've also found four new loci in previously identified regions. Compared to other cancer types, we have accounted for a high proportion of site-specific heritability with fewer loci."

Nathanson and her team identified 12 new loci to bring the total number of known loci to 40 in germ cell tumors.

"Even though this cancer is curable, it shows how much we still have to learn about this particular disease type," Nathanson said. "These findings can guide us when trying to determine which patients are at a high risk of developing disease and who among them should be screened."

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The study was published June 12 in Nature Genetics.

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