Cancer, genetic disease and autism: Can we provide better informed treatment for patients with a PTEN mutation?

Cancer development is driven when mutations in individual cells change key proteins that regulate important cellular processes including cell growth, survival and proliferation. Such mutations are also inherited by some individuals, and so are present throughout the body, generally leading to symptoms that include an increased risk of tumours. Our laboratory has been studying a specific set of proteins that act together as a functional unit termed the PI3K/PTEN signalling network to coordinate cells responses to their environment, including their growth, survival and proliferation. Approximately a third of cancer patients, so around 6 million people per year globally, have a cancer which has a genetic change in the PTEN gene. We have recently found that amongst patients inheriting a PTEN mutation, mutations which reduce the stability of the PTEN protein, without reducing its specific activity as an enzyme, are more likely to be found in patients with neurological symptoms including autism, but not tumours. These data should help develop new drugs to treat cancer but also open up the possibility of providing patients newly diagnosed with a PTEN mutation a more accurate prediction for their disease and better planning of their treatment.