Childhood brain tumours (CBTs) are the second most common paediatric malignancy after leukaemia and the leading cause of cancer-related death in children under the age of 19 years. CBTs can be classified into several distinct groups based on their cell morphology and malignant potential. All CBTs have a neuroepithelial origin and are thought to be derived from neural stem cells that can differentiate into a variety of different tumour types such as astrocytic tumours, oligodendroglial tumours, mixed gliomas, ependymal tumours, neuronal and mixed tumours, neuronal and glial tumours, embryonal tumours and primitive neuroectodermal tumours. By far the most frequent are gliomas, followed by embryonal tumours. 

Currently, very little is known about the genetic basis of childhood brain tumours and this proposal is aimed at obtaining genetic knowledge about the causes of this tragic disease.

The aim of this exploratory study will be to identify unequivocal rare genetic variants that are associated with disease and to determine the inheritance pattern of the offending variant.  This will be achieved in performing exome sequencing (examining all of the coding regions in the genome in a single assay) on a selection of DNA samples derived from patients with a brain tumour and their parents (14 trios in total).  The parents are necessary to determine:

  1. if new causative variants have occurred which are not present in either parent
  2. if one or two variants are required to initiate disease
  3. explore the possibility that environmental insults affect disease risk.
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