Overview

Li-Fraumeni syndrome genetic and predictive testing

Cancer is a common condition. It will affect half (50%) of the population at some point. As we get older we are more likely to develop cancer as our bodies become less effective at protecting us.

Most cases (about 9 out of 10) happen by chance, but a few (about 1 out of 10) happen when someone has inherited an increased risk from a member of their family.

In some families, there are more cases of cancer than normally happen by chance. In some of these families, cancer can be due to an inherited risk from our parents.

People with Li-Fraumeni syndrome have a 9 in 10 (90%) increased risk of developing specific types of cancer by the age of 60. Li-Fraumeni syndrome can cause cancers such as:

  • breast
  • osteosarcoma
  • soft tissue sarcomas
  • brain tumours
  • adrenocortical carcinomas
  • childhood cancers

Genes

Genes are coded messages that give instructions for how cells in the body grow and function. Genes come in pairs and we inherit one copy from each parent.

The function of the TP53 gene is to protect us from cancer by controlling the growth of cells. 

If someone inherits a mutation (fault) in one copy of the TP53 gene, they will be more likely to develop cancer. People with a change in the TP53 gene have Li-Fraumeni syndrome.

Someone with a TP53 gene mutation also has one normal copy. Only one copy of each gene pair is passed on to a child. If someone has a mutation in one copy of the gene, they have a 1 in 2 (50%) chance of passing on this mutation to each child they have, regardless of their biological sex or the child’s sex. 

Testing

We can carry out tests to investigate whether Li-Fraumeni syndrome runs in your family.

You can read more about further genetic testing and predictive testing for Li-Fraumeni syndrome.

In some families no genetic testing is possible. 

Deciding whether to be tested

Deciding to have genetic testing is a personal decision and can be a difficult and complex process.

Not everyone will choose to have genetic testing. If you decide against it you may still be eligible to have regular screening and we will discuss this with you. 


Research studies

Regardless of the result of your testing, there may be an opportunity for you to take part in research. Your genetics clinician or a research nurse will discuss this with you. For further information, contact a member of the research team on 020 7188 2603.

Resource number 5349/VER1
Published date March 2023
Review date March 2026

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