Li Fraumeni over Time Study (LiFTS)

The Sanger Institute and EMBL's European Bioinformatics Institute are collaborating to understand how the risk of developing cancer changes over time for people with Li Fraumeni Syndrome - a condition that dramatically increases the risk of tumour formation. The findings should help to improve early detection and prevention.

People with Li Fraumeni Syndrome (LFS) have typically inherited an inactive TP53 gene, known as the ‘guardian of the genome’. A healthy TP53 gene acts as a tumour suppressor, repairing DNA damage as and when it occurs, and prevents cancers forming. For people with LFS and a mutation in TP53, there is usually a near 100 per cent risk of developing at least one type of cancer during their life time.

However, much about this genetic condition, and people’s predisposition to cancer, is unknown. There are some people with LFS who develop cancer. In some families a TP53 mutation seems to cause different cancers in different people. In addition, it appears that the risk of developing cancer changes over time for people with LFS.

The LiFTS (Li Fraumeni over Time Study), co-led by Dr Raheleh Rahbari at the Sanger Institute and Dr Isidro Cortés-Ciriano at EMBL-EBI, seeks to understand the biology of living with LFS. It is supported by the Medical Research Council and the George Pantziarka TP53 Trust.

The study’s aims are to understand why the frequency of cancer, and the age of cancer onset, vary according to where the cancer arises. It will also explore why some mutations in TP53 are associated with a higher risk of developing cancer than others.

The study will use DNA sequencing and analysis to identify and track the genetic alterations taking place with the cells of people with LFS over a number of years

It is hoped that the study will help to improve understanding of cancer development and to improve the lives of LFS patients.