The incidence of testicular germ cell tumors (TGCT) has increased during the better part of the twentieth century and is of particular concern as it primarily affects young men. Though the tumor is relatively infrequent in the population as a whole, TGCT is the most common cancer among U.S. males aged 15-34. Despite the increases in rates, its etiology is still poorly understood. The only well-described risk factors for TGCT are cryptorchism, family history of TGCT and personal history of TGCT. Therefore, to understand better the environmental and genetic determinants of TGCT risk, a case-control study was conducted among members of the U.S. Armed Forces. The study included men who had donated a blood sample to the Department of Defense Serum Repository (DoDSR) between the years 1989 and mid-2003. All DoDSR donors who developed TGCT were matched to DoDSR donors who had not developed TGCT.
A genome-wide association study (GWAS) has completed using data from 754 cases and 928 controls. DNA has been genotyped for polymorphisms in the hormone metabolism pathway, immune function pathway, insulin-like growth factor pathway and for single nucleotide polymorphisms in the 8q24 locus.
Note: Genotype data from this study will be made available in dbGaP once the initial publication is in press at a peer-reviewed journal.
Chung CC, et al. Meta-analysis identifies four new loci associated with testicular germ cell tumor. Nature Genet 2013.