Genomic aberrations in children with malignancy and associated abnormalities.

Copy number variation (CNV) has recently been implicated in the pathogenesis of developmental disorders (incl. congenital anomalies and mental retardation) en predisposition to a number of medical conditions. Children with cancer have a significantly increased incidence of associated congenital anomalies. Here we will investigate the presence of consitutional genetic defects that may underlie such combinations (development of a tumor in a child with congenital anomaly and/or mental retardation). Therefore we will establish a patient registry and analyze DNA of patients and parents using the newly available genomic technologies. In addition we will analyse tumor DNA to identify candidate in the genomic region that exhibit CNV. Finally we will use D. melanogaster models to study the identified genes mechanistically. This will allow us to develop novel insights into the mechanisms that underlie the predisposition for tumors in childhood.

Keywords:Genomics, Cancer genetics, Copy number variation, Childhood cancer, Congenital anomaly

Disciplines:Morphological sciences, Oncology, Genetics, Gynaecology and obstetrics, Molecular and cell biology, Systems biology