The aim of my project is to identify typical mutational patterns that occur in tumors of children with DNA repair syndromes. We focus specifically on Ataxia Telangiectasia, Bloom Syndrome, Constitutional Mismatch Repair Syndrome, Fanconi Anemia, Li-Fraumeni Syndrome and Nijmegen Breakage Syndrome. Ultimately, we hope that this knowledge will lead to better recognition of children with cancer due to underlying DNA repair syndromes and improved care and surveillance of these children.
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