There is a recurring theme in many stories from families affected by the rare cancer predisposition condition called Li Fraumeni Syndrome (LFS). It is the moment when someone in the family is finally diagnosed with LFS – at that moment things start to make sense. There is usually a grim family history that precedes the diagnosis – a history of individuals being struck with cancer at a young age, of strange patterns of rare malignancies and some who have suffered two, three or even more different primary cancers. In the absence of the LFS diagnosis this is put down to bad luck – a series of random and unconnected events that seems more like a curse than the workings of chance alone. The LFS diagnosis, when it finally comes, seems to make sense and provides some level of explanation for the sequence of horror stories.

LFS is associated with an inherited mutation in a particular gene called TP53, a gene often known as the ‘guardian of the genome’. TP53, via the p53 protein that it codes for, is the first line of defence against cancer – cells which have suffered DNA damage and which cannot be repaired are flagged to self-destruct before they can become cancerous. For people without this natural anti-cancer protection in place there is little to stop tumour formation –in fact for people with LFS the life-time risk of developing cancer is around 90%. In particular the syndrome is characterised by early onset breast cancer and rare childhood cancers such as soft tissue and bone sarcomas. It is also not uncommon for people to survive one cancer only to go on to develop a different form of the disease at a later point.

George Pantziarka George Pantziarka

In this scenario catching cancer early is essential – it calls for a heightened state of vigilance and regular surveillance. But this in turn depends on a formal LFS diagnosis to trigger that requisite state of alert. The fact is that while diagnostic criteria have improved in recent years, and genetic testing technology moved on considerably, many families with LFS remain undiagnosed. The criteria for TP53 testing are complex and in some cases may not be triggered until a child develops a second or third malignancy. There is an argument to be made that all children diagnosed with cancer should be germ-line tested – not only will this identify those individuals suffering from LFS or other cancer predisposition syndrome, it may also shed new light on a disease that is primarily associated with older age groups.

In the past there have been objections to routine genetic testing for LFS and other conditions. The first was associated with cost, but with the improvements in technology this is no longer sustainable. A more fundamental objection has been that testing and subsequent diagnosis imposed additional psychological distress on affected individuals – particularly as there is no cure for a disease like LFS. However, for many families a diagnosis both provides an explanation for the pattern of disease and may open the doors to improved access to doctors and testing when cancer is suspected. Secondly, while there is no cure for the underlying TP53 mutation, there is increasing evidence that there may be other factors which impact on the elevated cancer risk. There may be preventative measures, including the use of drugs, dietary and lifestyle interventions which may reduce the risk in affected individuals.

George Pantziarka TP53 Trust

George Pantziarka TP53 Trust - helping families with Li Fraumeni Syndrome and other TP53 related disorders.

The George Pantziarka TP53 Trust supports people with Li Fraumeni Syndrome and other TP53 related disorders.
It aims to:
• Increase understanding of the condition among sufferers and their families
• To support individuals and families with the condition
• To increase awareness of the condition among doctors and to increase the rate of TP53 testing
• To promote research into the condition and to look for treatments
• To foster a feeling of community and to end the isolation that currently exists amongst sufferers and their families

The trust has been set up by the Pantziarka family in memory of George Pantziarka 28.03.93 - 25.04.11

Website: www.tp53.co.uk

http://www.anticancer.org.uk/

Facebook: https://www.facebook.com/GPTP53

Donation: https://mydonate.bt.com/charities/georgepantziarkatp53trust

Charity registered number: 1157167

Read more:

http://newparadigmpublishing.co.uk/for-the-love-of-george/

http://www.internationalinnovation.com/the-guardian-of-the-genome/