What is Li-Fraumeni Syndrome?

Li-Fraumeni Syndrome is a condition that makes a person more likely to develop one or more cancers in the following areas of the body:

  • Brain
  • Breasts
  • Bones
  • Blood
  • Adrenal gland (a tiny organ located on top of each kidney)
  • Muscles or connective tissues

Less commonly, people with Li-Fraumeni Syndrome may develop other types of cancers, including those affecting the following areas of the body:

  • Skin
  • Thyroid gland
  • Lungs
  • Digestive system (esophagus, stomach, pancreas or colon)
  • Urinary system (kidney, bladder)
  • Reproductive system (uterus, ovaries, prostate, gonads)

Li-Fraumeni Syndrome is caused by changes in a gene known as TP53. Genes carry important information that tell our body’s cells how to work. The TP53 gene controls how cells grow and divide. One of its main jobs is to prevent cancers from forming. Normally, cells carry two working copies of TP53. One is inherited from each parent. Cells from people with Li-Fraumeni Syndrome carry one working copy of TP53 and one copy that is changed. This change causes the gene to not work right and is called a variant. When the remaining working copy of TP53 becomes damaged in a cell, this can lead to a cancer.

Most children with Li-Fraumeni Syndrome inherit the syndrome from a parent who also has the syndrome. But some children with Li-Fraumeni Syndrome may have a new TP53 variant that did not come from a parent. In these cases, the TP53 variant either happened in an egg or sperm cell that formed the child or in one of the child’s cells during pregnancy. These children are the first in their families to have Li-Fraumeni Syndrome.

No matter how they got the changed gene, people with Li-Fraumeni Syndrome have a 50% (or 1 in 2) chance of passing it on to their children.

A doctor may suspect this diagnosis after looking at a person’s medical or family history. In most cases, a doctor or genetic counselor will ask questions about the person’s health and the health of other family members. Read more about genetic counseling and genetic testing.

Diagnosing this syndrome is usually done by sequencing the TP53 gene to find variants (gene changes).

By age 30, it is estimated that half of all people with Li-Fraumeni Syndrome will develop some kind of cancer. By age 60, the likelihood of cancer for people with Li-Fraumeni Syndrome increases to about 80–90%.

People with Li-Fraumeni Syndrome are more likely to develop multiple cancers and cancers caused by radiation. Because of the wide range of cancer types that can affect children with Li-Fraumeni Syndrome, it is hard to predict the kinds of cancer that will develop. It is also hard to know when these cancers will occur.

Cancer screening involves tests to check for cancer before symptoms occur. The goal is to find cancer at the earliest and most treatable stage. Guidelines for cancer screening are available online. Recommended screenings may change over time as doctors learn more about this syndrome, so these screening tests should be discussed with a health care provider who knows this syndrome well.

Other ideas to reduce the risk of cancer include:

  • Eat a healthful diet with lots of fruits and vegetables
  • Get regular exercise
  • Avoid smoking or using tobacco products
  • Avoid secondhand smoke
  • Avoid excess sun exposure and always wear sunscreen, hat, and protective clothing when out in the sun
  • Get medical attention for unusual or ongoing symptoms

Because of the medical concerns related to this syndrome, specialists in the following areas may need to assess a child with Li-Fraumeni Syndrome:

  • Dermatology
  • Gastroenterology

Resources about Li-Fraumeni Syndrome:

Other resources:

 

Adapted from educational materials developed by the St. Jude Children’s Research Hospital Cancer Predisposition Program