What is Li-Fraumeni Syndrome?

Li-Fraumeni syndrome is an unusual genetic disorder notable because it causes people to have an increased predisposition to cancer. People with this genetic mutation are more likely to develop cancer at a young age and can experience cancer several times in different locations over their lifetimes. Researchers had identified approximately 400 individuals in fewer than 70 families with Li-Fraumeni syndrome as of 2010, illustrating the rarity of this condition.

In people with Li-Fraumeni syndrome, there appears to be a mutation on the tumor suppressor gene. For people without the mutation, the gene acts to suppress the development of tumors in the body when cell division goes awry. In this condition, the gene kicks in, and cancers have an opportunity to gain a foothold and spread. This condition is dominant, with people only needing to inherit one copy of the gene to develop the condition.

To be diagnosed with Li-Fraumeni syndrome, a patient must be diagnosed with sarcoma before the age of 45 and have at least one first-degree relative who was diagnosed with cancer of any kind before age 45. In addition, a first- or second-degree relative with cancer before 45 or sarcoma at any age should be present in the patient's family history. Using these criteria, doctors can identify candidates for genetic testing to see if they have the mutation.

Patients with Li-Fraumeni syndrome may develop cancers as early as childhood. A range of cancers can be observed, with breast, bone, and brain cancers being especially common. The outcome of treatment varies depending on where the cancer is located and how far it progresses. There is a strong chance of developing another kind of cancer at some point in the future, requiring additional cancer treatment.

Researchers are very interested in studying people who appear to be more susceptible to cancer, such as patients with this condition, because it can provide important clues about how cancer works in the population as a whole. Finding genetic variations allows researchers to see how and why mutations arise. This information can be applied to the development of more precise genetic tests to predict cancer susceptibility and provide patients with interventions if it seems likely that they will develop cancers because of their genetic heritage. This can include prophylactic care for patients to prevent cancer from developing at all, along with more aggressive early screening to catch cancer as soon as it appears.