So much about LFS is unknown. We know that for most people with LFS there’s an inherited mutation in the TP53 tumour suppressor gene. Except for those people who develop it in the womb rather than inherit it (de novo cases). Or those people who have it in some cells but not others (mosaic cases). Or those with no known genetic cause (no TP53 mutation but similar family history to people with the mutation). We know that it’s associated with high cancer risk. Except for those who never get cancer despite the condition. Or those with a TP53 variant that seems to cause different cancers in different people within the same family… And why does cancer risk change over time?
So many questions and the only way to answer them is through more research. The lack of knowledge prevents us finding treatments to reduce the risks of cancer. It stops us developing better surveillance techniques to catch cancers early. It makes it hard to estimate risks for individual people with LFS.
This is where LiFTS (Li Fraumeni over Time Study) comes in. It’s a fantastic new project, co-led by Dr Raheleh Rahbari (Sanger Institute) and Dr Isidro Cortés-Ciriano (EMBL-EBI) and developed thanks to the support of the Medical Research Council and the George Pantziarka TP53 Trust. With £1.4 million in funding from the MRC this is a major step up in research funding of LFS. The aim is to understand the biology of living with LFS. Specifically, we aim to understand why the frequency of cancer and the age of cancer onset varies depending on where the cancer arises, and why some mutations in TP53 are associated with a higher risk of developing cancer than others. To do this, we will use sophisticated methods to analyse the alterations in the DNA of cells that occur during life – taking samples from volunteers over a number of years and tracking the changes. Our ultimate goals are to improve our understanding of cancer development and to improve the lives of LFS patients.
And it’s a great pleasure to announce this new project on LFS Awareness Day 2022.
The study is open to participants from the UK and overseas. Please contact us if you are interested in participating or learning more about the project.
Dr. Raheleh Rahabari firstname.lastname@example.org
Dr. Isidro Cortes-Ciriano email@example.com
Dr. Pan Pantziarka firstname.lastname@example.org