So much about Li Fraumeni Syndrome (LFS) is unknown. We know that most people with LFS have inherited a mutation in the TP53 tumour suppressor gene. But this isn’t always the case. Some people develop the mutation as a baby in the womb, rather than inherit it. And there are others who have the mutation in some cells, but not others, known as mosaic cases. Plus, there are some people who have LFS, and a family history of the disease, but no known genetic cause - they don’t have a TP53 mutation at all.
We know that LFS is associated with high cancer risk. Except, there are people who never get cancer, despite having the condition. In some families, a TP53 mutation seems to cause different cancers in different people. And, we don’t know why an individual’s cancer risk changes over time.
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. There are so many questions, and the only way to answer them is through more research.
This is where LiFTS (Li Fraumeni over Time Study) comes in. It’s a fantastic new project, co-led by Dr Raheleh Rahbari at the Sanger Institute and Dr Isidro Cortés-Ciriano at EMBL-EBI. The study has been developed thanks to the support of the Medical Research Council and the George Pantziarka TP53 Trust. Our aim is to understand the biology of living with LFS. Specifically, we want to understand why the frequency of cancer, and the age of cancer onset, varies depending on where the cancer arises. We are also investigating 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, as these occur during life, and we will take samples from volunteers over a number of years and track the changes. Our ultimate goals are to improve our understanding of cancer development and to improve the lives of LFS patients.
It’s a great pleasure to announce this new project on LFS Awareness Day 2022.
The study is now open to participants. To find out more, please contact us.
Dr Raheleh Rahbari email@example.com
Dr Isidro Cortes-Ciriano firstname.lastname@example.org
Dr Pan Pantziarka email@example.com