Blog Post 100: TP53 and Li Fraumeni Syndrome

Good morning one and all :)

So I have reached blog post number 100! I wanted to mark this milestone by dedicating it to our wonderful Georgie. So I am going to use this post to provide information on the gene mutation that led to him becoming ill and passing away at such a young age. Everybody knows that Georgie is the main inspiration behind this blog and all the work I do in the fight against cancer and I miss him everyday. Thank you very much to everyone who reads my blog, I can’t believe I’ve managed to get to 100 posts! Here’s to the next 100 :)

The TP53 Gene:

The TP53 gene acts as a tumour suppressor. It creates the p53 protein which kills cancerous cells. When the TP53 gene fails, the body loses one of its key ways of stopping damaged cells developing into cancer. Some people with cancer find their TP53 gene is damaged within the tumours but is functioning normally throughout the rest of their body. However, some people are born with a damaged TP53 gene. These is usually an inherited problem and it passed down from parent to child. These people have a very very very high risk of developing cancer.

Li Fraumeni Syndrome:

LFS is one of the most serious kinds of inherited TP53 disorders. It is a rare disorder that greatly increases the sufferers risk of developing several kinds of cancer especially children and young adults. The most common cancers associated with LFS are: breast cancer, osteosarcoma (a type of bone cancer) and soft tissue sarcomas.

Diagnosing Li Fraumeni Syndome:

LFS is rare so not much is known about it. Genetic testing and genetic counselling are used to confirm whether or not someone is suffering from LFS. If it is confirmed then this person will need to be regularly screened to check for cancer. The sad fact is, people with LFS are very likely to develop cancer so it is hugely important for them to be screened as cancer is easier to treat the earlier it is diagnosed.

Please look into genetic testing if you meet the following criteria:

An individual with:

·         Adrenocortical cancer at any age

·         Choroid plexus cancer at any age

·         Rhabdomyosarcoma below 5 years

·         Breast cancer below 30 years old (if eligible for BRCA1/2 testing, this should be performed first)

·         Two or more primary cancers of the following: sarcoma, breast, brain, adrenocortical or any childhood cancer; at least one below 46 years old

Two relatives affected with:

·         Sarcoma, breast, brain, adrenocortical or any childhood cancer; one relative below 36 yrs and one relative below 46 years old

Three relatives affected with:

·         Sarcoma below 45 yearrs old and

·         any cancer below 45 years old and

·         any cancer below 45 years old or sarcoma at any age

Georgie and Li Fraumeni Syndrome:

Georgie’s mum died when Georgie was one years old. She was 29 years old and had ovarian cancer. Georgie was then diagnosed with cancer a few months later on his second birthday. At the time it was written off as a horrific coincidence by doctors. It wasn’t until Georgie was diagnosed with cancer for the third time at the age of fifteen that we discovered he had Li Fraumeni Syndrome which has probably been inherited from his mother.

It took a very long time for Georgie to be diagnosed with the osteosarcoma that eventually killed him. At first he was told it was a dental problem. Had we have known he had LFS; he could have been diagnosed much quicker as alarm bells would have been ringing. We will never know if this could have saved his life. We live with the “what if?”

LFS and other TP53 disorders are rare and not much is known about them. There is little awareness about them amongst the general public and even the medical profession. There aren’t any dedicated support groups or charities, no information resources and no registry of the sufferers. There isn’t a community for the sufferers which can make it very isolating, lonely and terrifying for the sufferers and their families.

As I have mentioned before, my uncle has set up the George Pantziarka TP53 Trust to honour Georgie’s memory by providing support to families and individuals, to provide information on TP53 disorders including LFS and to get research funded to look into the condition. Hopefully the trust will be registered as a charity one day soon and will continue to grow.

At the moment the trust has a forum on the website which is used to bring together people affected by the condition. Please do take a look and feel free to ask any questions – my uncle is always happy to answer!

For more information on TP53 and Li Fraumeni Syndrome, please visit www.tp53.co.uk

xxx