A genetic predisposition to cancer is commonly recognized, but the underlying causes have so far been resolved in only a few percent of the cases. Second malignancies in children without a known cancer syndrome or a pronounced family history for cancer may be mistaken for relapses or therapy-related malignancies. I hypothesize that in a significant proportion of children and young adults, the occurrence of second malignancies signifies a genetic predisposition. I use next generation sequencing in normal and tumor tissues of carefully selected cohorts of pediatric and young adult cancer patients and their parents, in order to identify the predisposing variants. Functional studies on the variants found focus on expression, localization, and cell biological effect. I anticipate that this work will increase our knowledge on the cause, incidence and penetrance of cancer in children and young adults, which will subsequently have consequences for its clinical management.
I performed my postdoctoral research in the Radboudumc (Nijmegen, the Netherlands) focusing on the somatic aberrations in pediatric leukemia and in St Jude Children’s Research Hospital (Memphis, TN) studying familial leukemia. My current research at the Princess Máxima Center focusses on clonal evolution and relapse development in leukemia and on predisposition in children with cancer.
I am chair of the COST action LEukemia GENe Discovery through data sharing, mining, and collaboration (LEGEND, CA16223), which creates and facilitates networks of clinicians and researchers in Europe in order to study predisposition to pediatric leukemia and lymphoma development and adverse effects to treatment.
As of July 2018, I am in training for Laboratory Specialist Clinical Genetics at the University Medical Center Utrecht in Utrecht, the Netherlands.