Thursday, 9 February 2012

Li Fraumeni Syndrome

The TP53 gene is one of the major anti-cancer genes in the body. It's the tumour suppressor gene most often knocked out in tumours, which makes those tumours more resistant to treatment. As with many genes, there are a small set of people who are born with the gene knocked out in some way. With TP53, this can lead to a condition called Li Fraumeni Syndrome - which means people born with the damaged TP53 gene are very susceptible to developing cancer.

Often Li Fraumeni sufferers will develop rare sarcomas in childhood, and can develop multiple primary cancers over the years. It's a rare condition, thankfully, but for sufferers things can be grim. There are no cures (gene therapy is still a long way off), and many people are ignorant of the syndrome. A new site has been started to raise the profile of the condition, to provide a forum for sufferers and their families and to publish useful information.

The site is published by the George Pantziarka TP53 Trust, and the URL to visit is http://www.tp53.co.uk