The international hunt to find more genetic risk markers for testicular cancer is expanding. A team of researchers led by Katherine L. Nathanson, MD, Deputy Director of the Abramson Cancer Center and the Pearl Basser Professor for BRCA-Related Research in the Perelman School of Medicine at the University of Pennsylvania, was recently awarded $5.4 million over 5 years from the National Institutes of Health to continue the long-standing genomics work of the Testicular Cancer Consortium (TECAC).
Katherine L. Nathanson, MD
A total of nearly $7 million has been awarded to TECAC, which includes researchers from 27 institutions around the world, whose collaborative goal is understand the genetic susceptibility to testicular germ cell tumors. This is the most common cancer in the United States and Europe in men between the ages of 15 and 45, and the number of cases has continued to rise over the past 40 years. Approximately 50% of the risk of disease is due to genetic factors.
To date, TECAC has identified 22 novel susceptibility alleles, bringing the total number of risk markers to 66. Dr. Nathanson led a study in 2017 published in Nature Genetics that identified eight of those markers in previously unknown gene regions, as well as four in previously identified regions.1
“Our work has revealed critical roles for genetic variants and mutations in testicular germ cell tumors and defined the biology of testicular germ cell tumors as associated with defects in maturation of male germ cells, but there’s still much more to discover with this highly heritable disease,” Dr. Nathanson said.
The latest round of funding will focus on three projects: identifying rare and common variants using whole-exome genetic sequencing from biosamples of more than 2,000 men; conducting a transcriptome-wide association study to identify novel candidate susceptibility genes in nearly 250,000 men; and further evaluating any variants or gene discovered from those two projects using tools in cells.
1. Wang Z, McGlynn KA, Rajpert-De Meyts E, et al: Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor. Nat Genet 49:1141-1147, 2017.