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Denise Kersjes

Bioinformatician
Denise Kersjes

Structural variants underlying genetic interactions in pediatric cancer

Phone 088 97 25 188

Deciphering cancer predisposition, onset and progression is crucial for applying optimal therapy for every single patient. It is known that pediatric cancer is a genetic disease characterized by multiple mutations in the DNA. Besides, it is assumed that genetic interactions between mutated genes are involved in cancer development. A genetic interaction can be observed when a mutated gene pair occurs more often (co-occurring) or less often (mutually exclusive) than expected given the frequency of each individual mutation. Currently, a first genetic interaction network in pediatric cancer is constructed by the Kemmeren group. Here, single nucleotide variants as well as small insertions and deletions were considered during the genetic interaction test. However, structural variations have shown to cause large DNA rearrangements contributing to tumor onset and growth. During this study, structural variants will be added to the current genetic interaction test to detect new co-occurring and mutually exclusive candidates driving pediatric cancer.