MyTP53

Li-Fraumeni Syndrome (LFS) is a rare inherited condition linked to a germ-line mutation in the TP53 gene. This gene normally produces a protein called p53, which helps prevent cancer by repairing damaged DNA, or removing cells that cannot be repaired, and therefore stops cells from turning cancerous. When TP53 is mutated, p53 cannot repair damaged cells, making cancer much more likely.

In the UK, there are about 700-800 people with a known diagnosis of LFS. People with LFS have a greater chance of developing cancer in their lifetime. Despite the high incidence of cancer in LFS, it is impossible to predict who will and won’t get it, and what type of cancer they are most likely to get.

It is believed that mutations in different locations along the TP53 gene predispose to certain cancers and that risk is also influenced by environmental factors like diet, tobacco, and radiation exposure. However, this research has never been properly conducted because of the rarity of LFS, and because there is no central genetic database of people with LFS alongside a record of their family history, lifestyle and environmental risk factors.

This means that predicting cancer risk in people with LFS is impossible and every person with LFS is managed the same, regardless of their individual factors. The LFS community have asked that researchers pool their information, rather than conduct small fragmented studies, so that there is a better collective understanding of their individual risk of specific cancers.

To address this, and with support from the George Pantziarka TP53 Trust and LFS representatives, Oxford Cancer has launched MyTP53.

MyTP53 aims to build a digital community of people with LFS and their families, and will collect and integrate genetic, lifestyle, and clinical data from people living with LFS in the UK to better understand how different factors may influence cancer risk. This information will potentially help improve cancer prediction, surveillance, and care for people with LFS as well as being a valuable resource for researchers around the world to improve the collective understanding of this syndrome.