Linkage studies and candidate locus studies have had limited success in identifying genetic susceptibility genes for testicular germ cell tumors (TGCT). Genome-wide association studies (GWAS), however, have identified a number of important loci, the one with the highest hazard ratio being KITLG, which confers a risk greater than three-fold over background. GWAS have now been completed in a number of populations and investigators have come together to pool their data to study TGCT as a consortium. Study results are being combined to develop better estimates of risk for each genetic variant. In addition, stratified analyses are examining whether risk of each variant varies by other factors such as histology of the TGCT, history of cryptorchidism, and family history of TGCT.
For more information, contact Katherine McGlynn.