Li-Fraumeni Syndrome

What is Li-Fraumeni syndrome?

Li-Fraumeni syndrome is a rare inherited disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.

The cancers associated with Li-Fraumeni syndrome include osteosarcoma (a form of bone cancer), soft tissue sarcoma (cancer that occurs in soft tissues such as muscle), breast cancer, brain tumours, adrenocortical carcinoma (cancer of the adrenal gland, a small hormone-producing gland on top of each kidney), and leukaemia (a cancer of blood-forming tissue). Other types of cancer also occur more frequently in people with Li-Fraumeni syndrome.

How common is Li-Fraumeni syndrome?

Li-Fraumeni syndrome is rare. Fewer than 400 families worldwide have been diagnosed with the condition.

What genes are related to Li-Fraumeni syndrome?

The CHEK2 and TP53 genes are associated with Li-Fraumeni syndrome.

More than half of all families with this condition have inherited mutations in the TP53 gene. TP53 is a tumour suppressor gene, which means that it normally helps control the growth and division of cells. Mutations in TP53 can allow cells to divide in an uncontrolled way and form tumours. Other genetic and environmental factors are also likely to affect the risk of cancer in people with TP53 mutations.

A few families with cancers characteristic of Li-Fraumeni syndrome do not have TP53 mutations, but have mutations in the CHEK2 gene. Like the TP53 gene, CHEK2 is a tumour suppressor gene. Researchers are uncertain whether CHEK2 mutations actually cause Li-Fraumeni syndrome or are merely associated with an increased risk of certain cancers (including breast cancer).

How do people inherit Li-Fraumeni syndrome?

Li-Fraumeni syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing cancer. In most cases, an affected person has one parent with the condition.

What other names do people use for Li-Fraumeni syndrome?

• LFS
• Sarcoma, breast, leukaemia, and adrenal gland (SBLA) syndrome
• Sarcoma family syndrome of Li and Fraumeni
• SBLA syndrome