Jun 29, 2022 9:00 AM

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What is Li-Fraumeni syndrome?

Li-Fraumeni syndrome (LFS) is a genetic condition that increases the risk of developing many different types of cancers.

What causes Li-Fraumeni syndrome?

LFS is caused by alterations in the TP53 gene. The TP53 gene normally works to help prevent tumors. Alterations in the genetic code that cause the TP53 gene not to work properly cause an increased risk for cancer. Mutation is another word for a genetic alteration that causes a gene not to work properly.

How is Li-Fraumeni syndrome found?

LFS is diagnosed through genetic testing. Genetic testing looks for mutations. Often people decide to get genetic testing after they have a cancer diagnosis or find out they have a family history of LFS.

Is Li-Fraumeni syndrome inherited?

Most people with LFS have inherited this condition from a parent. If a person has a TP53 mutation, they will have a 50% chance of passing that on to biological children.

However, people can have LFS in other ways. Sometimes a TP53 mutation may occur even if a person’s parents do not have LFS. A TP53 mutation occurred in the sperm or egg that became the person. When someone is the first person in the family to have LFS, this is referred to as “de novo” (Latin for first). The first person in a family to have LFS has a 50% chance to pass it on to their children. Genetic testing is recommended for other family members, such as parents and siblings, but generally the risk for other relatives is low.

Another way a person may have LFS occurs when a TP53 mutation happens during development of the fetus. When a TP53 mutation occurs during development, a person will often have it in some parts of their body, but not others. This is referred as being mosaic (meaning a mix of different types of cells). If your doctor or genetic counselor suspects you are mosaic, additional genetic testing may be recommended. Often times, we can’t determine which body parts are affected. People who are mosaic LFS may be have up to a 50% chance of passing it on to biological children, and genetic testing is recommended for them. Generally, other relatives such as siblings and parents would not be at risk if a person has mosaic LFS, but genetic testing may be recommended.

What are the cancer risks of Li-Fraumeni syndrome?

These are the most common types related to LFS:

  • Female breast cancer
  • Brain tumors
  • Sarcoma
  • Other rare tumors, including childhood cancers

Does everyone with Li-Fraumeni syndrome have the same cancer risks?

Probably not. LFS presents differently in different families. Research is being done to find more accurate predictors of cancer types and ages. Some research has suggested that a person’s risk might depend on the specific TP53 mutation.

Is there a cure for Li-Fraumeni syndrome?

There is no cure for LFS. If you know you have LFS, certain cancer screenings are recommended that can help find cancer at an earlier stage, when it is often easier to treat.

What type of cancer screenings are recommended for people with Li-Fraumeni syndrome?

At Huntsman Cancer Institute, we recommend the following screening for children and adults with LFS:

Beginning in infancy or when the TP53 mutation is identified:

  • Annual whole-body MRI
  • Annual brain MRI
    • First brain MRI should be with contrast
  • Abdominal and pelvic ultrasound every 3-4 months until around age eight.
  • At least one annual physical exam, twice is preferred

Screening recommended after 18 years old:

  • Annual whole-body MRI
  • Annual brain MRI
    • First brain MRI should be with contrast
  • Annual dermatology exam starting at age 18
  • Colonoscopy every 2-5 years starting at age 25
  • Endoscopy exam of esophagus and stomach every 2-5 years starting at age 25

Females only screening:

  • Two clinical breast exams a year starting at age 20
  • Annual breast MRI starting at age 20
  • Annual mammogram starting at age 30
    • Breast imaging should alternate every six months once it includes a MRI and mammogram
  • Consider risk-reducing mastectomy

Huntsman Cancer Institute’s Family Cancer Assessment Clinic provides genetic testing and counseling as well as support to patients with Li-Fraumeni syndrome. To schedule an appointment, please call 801-587-9555.

Learn more about Li-Fraumeni syndrome and read about the latest TP53 research.

genetics cancer screening cancer prevention li-fraumeni syndrome

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