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