Introduction

TP53 is a gene that functions as a tumour suppressor. One of its jobs is to create the p53 protein, which acts to kill cells that have become cancerous. When the TP53 gene goes wrong, it means the body loses one of the key mechanisms it has for stopping damaged cells becoming cancers. Many people who develop cancer end up having the TP53 gene damaged in their tumours, but it functions normally in the rest of their body. However, there are some people who are born with a damaged TP53 gene, and for these people the risk of getting cancer is incredibly high. In many of these cases the damaged TP53 gene is inherited - it is passed down from parent to child.

Li Fraumeni Syndrome (LFS) is one of the most serious forms of inherited TP53 disorder. My son, George, had LFS, which we assume he inherited from his mother, who died of ovarian cancer at the age of 29, when George was just over a year old. We did not know that George had LFS until after he was diagnosed with his third cancer - the osteosarcoma which ultimately killed him.

While LFS and other congenital TP53 disorders are rare, the fact remains that there is little awareness of the issue, both amongst the general population and also amongst the medical profession. There are no support groups, no charities, no central information resources and currently no central registry of sufferers. For those families with LFS or other TP53 disorders, it can be a lonely and frightening existence, with children and adults alike succumbing to one or more cancers.

Having discussed the issue with a number of doctors and researchers, we have decided to create the George Pantziarka TP53 Trust in George's memory. The aim is to provide support to families and individuals, to provide information to all, and to help foster understanding and research into the condition.

As a first step we are launching this web-site and forum. The plan is to use the site to bring together all those affected or interested in the condition. Further down the line we hope to register the Trust as a charity so that we can expand the range of activities that we can undertake.

For now, any offers of support would be greatly appreciated.

To get in touch please use the contact form from the main menu or click here.

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TP53 Blog

  • Li Fraumeni Syndrome (LFS), a rare genetic condition that predisposes sufferers to cancer development, is associated with mutations in the TP53 tumour suppressor gene. Although rare, LFS sufferers have a highly elevated risk of developing one or more cancers, with some estimates putting the life-time risk at 70% for males and 100% for females. However, new research published today in leading online oncology journal ecancermedicalscience, suggests that cancer development may be due to more than a mutated tumour suppressor function. In a new paper by Pan Pantziarka PhD, a scientist working for the Anticancer Fund and co-ordinator of the Repurposing...

  • Keywords: Cancer, p53, Li Fraumeni SyndromeTitle: p53 : The Gene That Cracked The Cancer CodeAuthor: Sue ArmstrongPublisher: Bloomsbury SigmaISBN: 978-1472910516 Buy USBuy UKIf any single gene deserves a biography, it’s TP53 (more commonly known as p53). This is the gene, memorably christened the ‘guardian of the genome’ by David Lane, one of its co-discoverers, which is the tumour suppressor that is most commonly lost or mutated in cancer. It’s also the gene most commonly mutated in the rare and deadly cancer predisposition condition called Li Fraumeni Syndrome. Science writer Sue Armstrong has crafted that biography, delivering a...

  • The starting point for this blog was a conversation with my son, George, in the middle of his battle with osteosarcoma. I’d had been immersed in reading about treatments, supplements, theories and he thought that it would be good to share that knowledge with other people. We talked about it for a while and he came up with some ideas for a logo, we talked about the domain name and so on. It was typical George, thinking about the future, coming up with plans and schemes. The other web site he was really keen on starting was eat positive, that...