Testicular Germ Cell Tumors

Testicular germ cell tumors (TGCT) are the most common tumors in adolescent and young men. TGCTs probably arise from primordial germ cells during fetal development and are likely caused by the interaction of genetic and environmental factors, although the molecular pathophysiology of tumor development is still largely unknown. Epidemiological studies conducted to date show an exceptionally strong genetic component; in fact, TGCTs are the tumors with the third highest heritability. However, unlike the situation in many other cancers, highly penetrant risk genes for TGCT´s have not yet been identified.

With pathogenic variants in CHEK2 we were recently able to identify the first moderately penetrant risk variants for TGCT.

By combining high-throughput sequencing technologies, complementary analyses of tumor tissue and additional biochemical and cell biological analyses, we are now aiming to identify the highly penetrant risk genes for TGCT. The identification and functional analysis of disease-causing and predisposing genetic factors for TGCT will find its application in new molecular genetic tests for risk prediction, development of new therapeutic strategies and new insights into the pathogenesis of TGCT.

In order to gain deep understanding into the somatic TGCT alterations, members of the Institute are involved in The Cancer Genome Atlas Program (TCGA), a landmark cancer genomics program.

Moreover, members of the Institute are part of the TEsticular CAncer Consortium (TECAC), aiming to dissect the hereditary basis of TGCT´s.