Having Li-Fraumeni diagnosed

If you have Li-Fraumeni syndrome you are eligible for regular screening.

Having a TP53 mutation may affect treatment options if you develop cancer, so it is important to share this information with your medical team.

It is recommended that exposure to radiation is avoided, where possible, to reduce the risk of radiation-induced cancers.

MRI scans

You can have an annual brain and full body MRI screening to help detect early symptoms of cancer.

• For adults, this screening is available through our hereditary breast and ovarian cancer service.
• For children and young adults, it is available at Great Ormond Street Hospital for Children.

You can also have breast screening (annual breast MRI) from the age of 20 to help detect early signs of breast cancer.

Risk-reducing surgery

You may choose to have surgery to reduce your risk of developing breast cancer. This is done by removing as much as possible of the ‘at risk’ breast tissue. This is known as prophylactic (preventative) or risk-reducing surgery.

Personalised advice about this option is available through the hereditary breast and ovarian cancer service.

Support

Undergoing diagnostic testing and receiving the results can be a challenging time. Some people may wish to talk through their feelings, coping strategies and other issues before making a decision, or after their result.

Support is available. Your genetics clinician will discuss these with you in more detail so you can choose the best sources of support will be for you. They include:

• the Hereditary breast and ovarian cancer service
• TP53 support groups
• clinical psychologist
• your GP
• cancer charities

The hereditary breast and ovarian cancer service

If we find you have a TP53 gene mutation, we will send you an invitation to this clinic and a psychological questionnaire to complete. At your appointment, you will be able to ask questions and discuss your management in detail with a team of specialists.

Useful information

George Pantziarka TP53 Trust is a charity providing care, information and support to people affected by Li Fraumeni Syndrome.

Breast Cancer Now is a UK-wide charity providing care, information and support to people affected by breast cancer. Call the helpline on 0808 800 6000 (Monday to Friday, 9am to 4pm and Saturday 9am to 1pm) or email [email protected]

Someone Like Me is a service provided by Breast Cancer Now that puts you in touch with a trained volunteer who has (or has had) primary breast cancer, or is undergoing genetic testing, for advice and support. Call the helpline on 0345 077 1893 (Monday to Thursday, 9am to 5pm and Friday 9am to 4pm) or email [email protected]