Genetic Testing for LFS

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What is Li-Fraumeni syndrome?
Li-Fraumeni syndrome is a condition that makes a person more likely to develop one or more cancers in these areas of the body:
• Brain
• Breasts
• Bones
• Blood
• Adrenal gland (a tiny organ that is located on top of each kidney)
• Muscles or connective tissues

Less commonly, people with Li-Fraumeni syndrome develop other types of cancers, including those affecting these areas of the body:
1. Skin
2. Thyroid gland
3. Lungs
4. Digestive system (esophagus, stomach, pancreas or colon)
5. Urinary system (kidney, bladder)
6. Reproductive system (uterus, ovaries, prostate, gonads)

What causes Li-Fraumeni syndrome?
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 function.
The TP53 gene controls how cells grow and divide. One of its main jobs is to prevent cancers from forming. Normally, your cells carry two working copies of TP53. One is inherited from your mother and one from your father.

Cells from people with Li-Fraumeni syndrome carry one working copy of TP53 and one copy that is altered. This alteration causes the gene to not work properly and is called a mutation. When the remaining working copy of TP53 becomes damaged within a cell, this can lead to a cancer.

What is the cancer risk for children with Li-Fraumeni syndrome?
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.