Cure rates for childhood cancers have increased to about 80 percent in recent decades. Nevertheless, a large proportion of child survivors suffer severe long-term side effects from surgery, cytotoxic chemotherapy, and radiation therapy, including intellectual disability and secondary cancers. The development of more specific therapies with fewer long-term side effects is therefore of paramount importance.
One of the crucial steps in this regard is the identification of the genetic repertoire of malignancies in children. Thanks to the latest technologies in the field of genome sequencing, it is now possible to decipher the entire genetic and epigenetic code of a tumor within a few days, thereby identifying the driving genetic abnormalities within individual entities and across pediatric cancer types.
In our Pediatric Pan-Cancer (PedPanCan) study, we are investigating genetic alterations in childhood cancers at multiple levels. This includes analysis of structural variations, copy number changes and small mutations - both in somatic cells and in the germline. In addition, possible response of the samples to specific drugs is investigated.
Unlike cancers that usually occur in adulthood, childhood tumors are rarer and the number of mutations in the genome of cancer cells is smaller. Therefore, it is of particular scientific value to gain an overview of possible molecular cancer triggers and potential drug targets and make them available to the scientific community.