PTEN_loss_in_Murine_Tumours___TGS

The ultimate aim of this project is to uncover how PTEN-loss drives cancer development. PHTS (PTEN hamartoma tumour-syndrome) is a rare human genetic syndrome caused by germline heterozygous PTEN-inactivation, predisposing to hamartomas, macrocephaly, autism-spectrum disorder, and an increased risk of specific cancers which remain poorly characterised. Using a mouse model of germline PTEN-loss, which displays a phenotype comparable to PHTS patients, we intend to sequence murine tumours, with the ultimate aim of performing a cross-species genomic comparison. Given that mouse tumours show less genomic complexity than their human counterparts, this analysis has the potential to uncover a 'minimal map' of genetic lesions required to develop PTEN-associated cancer and may provide insight into cancers with somatically-inactivated PTEN as well as potential diagnostic markers of PTEN-associated cancers and new therapeutic targets.