Research interests

The oncological research in our Department focusses on schwannomatosis-associated tumors and on osteosarcomas. Schwannomatosis is a hereditary cancer syndrome, which is characterized by the development of multiple schwannomas but in the absence of vestibular schwannomas. We identified SMARCB1 as a causative gene in schwannomatosis. However, constitutional SMARCB1 mutations are found in no more than 50% of the familial cases and less than 10% of the sporadic cases, suggesting involvement of other genes in this disease. Very recently, we provided evidence for SMARCB1 involvement in schwannomatosis-associated meningiomas, indicating that also these tumors are part of the schwannomatosis tumor spectrum, which requires clinical redefinition for the disease. Osteosarcomas are very malignant bone tumors, which most frequently develop in children in the second decade of life. These tumors are characterized by complex genetic changes, including deletions and amplifications. We are specifically analyzing the amplification events on the short arm of human chromosome 17, which occur in about 25% of cases. We aim to identify the causative oncogenes in this region, which are supposed to be activated in the tumors by amplification and over-expression. The identified genes may have prognostic and diagnostic significance and may function as possible targets for gene-therapeutic interventions.


Molecular cancer genetics

Research output

  1. Oncogenic Properties of Candidate Oncogenes in Chromosome Region 17p11.2p12 in Human Osteosarcoma

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Expanding the mutational spectrum of LZTR1 in schwannomatosis

    Research output: Contribution to journalArticleAcademicpeer-review

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