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Testicular Germ Cell Tumor Methylation Study

The heritability of testicular germ cell tumors (TGCT) is high, with studies suggesting TGCT risks of eight-fold in brothers and four-fold in fathers of affected men, compared to men in the general population. However, genome-wide association studies of single-nucleotide polymorphisms have found limited heritable risk. In addition to TGCT being a complex genetic disease, with many alleles contributing small changes in risk, heritable risk could also manifest itself in DNA methylation which can affect gene expression. Recent studies examining genes involved in tumor suppression or cell-cycling have suggested there may be differences in methylation patterns between normal and TGCT tissue. At the National Cancer Institute, investigators have the opportunity to use a high-throughput assay to assess methylation across 450,000 genes. This study will compare the methylation profiles of specific TGCT histologies, such as seminoma, embryonal carcinoma and teratoma, with one another and with adjacent ‘normal’ tissue. This agnostic and powerful approach may provide clues into the etiology of TGCTs.

For more information, contact Katherine McGlynn.

Hormonal and Reproductive Epidemiology Branch - Research Areas