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Li-Fraumeni syndrome is an inherited condition that greatly raises a person’s chance of developing cancer, often at a young age and sometimes more than once. It is not a single type of cancer. Instead, it is a built-in weakness in the body’s natural defense against cancer.
That defense depends on a gene called TP53. The protein made by TP53 (called p53) is often described as the “guardian of the genome.” Every day, the DNA inside our cells picks up small errors and damage. The p53 protein acts like a quality inspector on a factory line. When it spots damage, it stops the cell from dividing, calls in repairs, and, if the damage is too great, instructs the cell to destroy itself. This prevents damaged cells from growing out of control.
Most people have two working copies of TP53 in every cell. A person with Li-Fraumeni syndrome is born with one working copy and one faulty copy (called a pathogenic variant). One working copy still does most of the job. But if that remaining copy is damaged in a particular cell during life, the inspector is gone, and that cell can more easily turn into a cancer. Because p53 guards almost every tissue in the body, the cancers can appear in many different organs. This is why one family may have a child with a bone tumor, a young mother with breast cancer, and an uncle with a brain tumor, all caused by the same gene change.
Five cancers make up most Li-Fraumeni-related tumors:
–Breast cancer
-Soft-tissue sarcomas
-Osteosarcoma
-Brain tumors
-Adrenocortical carcinoma
-Other cancers are also more common, including leukemia (blood cancer), bowel, stomach, lung, pancreas, prostate, and skin (melanoma) cancers.
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