Li-Fraumeni syndrome

Li-Fraumeni syndrome is a rare inherited disorder that greatly increases a person's risk of developing several types of cancer.

People with this condition have a very high risk of developing cancer, particularly as children or young adults. The types of cancer include a kind of bone cancer called osteosarcoma, soft tissue sarcoma (cancer that occurs in soft tissues such as muscle), breast cancer, brain tumors, adrenocortical carcinoma (cancer of the adrenal gland, a small hormone-producing gland on top of each kidney), and leukemia. Other cancers also occur more frequently in people with Li-Fraumeni syndrome.

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

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

More than half of the families with this condition have inherited mutations in the TP53 gene. TP53 is a tumor 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 tumors. Other genetic and environmental factors are also likely to play a role in the risk of cancer for people with TP53 mutations.

A few families with cancers characteristic of Li-Fraumeni syndrome (but without TP53 mutations) have mutations in the CHEK2 gene. Like the TP53 gene, CHEK2 is a tumor suppressor gene. Some studies have suggested that although CHEK2 mutations increase the risk of some cancers, it is uncertain whether they cause Li-Fraumeni syndrome.

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder.

In most cases, an affected person has one parent with the condition.

You may find the following resources about Li-Fraumeni syndrome helpful.

• NIH Publications - National Institutes of Health (2 links)
• MedlinePlus - Health Information
  Health Topic: Cancer
• Genes and Disease - Genetic disorder summaries
• Educational resources - Information pages
  Orphanet
• Patient support - For patients and families (3 links)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

• Gene Reviews - Clinical summary
• Gene Tests - DNA tests ordered by healthcare professionals
• ClinicalTrials.gov - Linking patients to medical research
• PubMed - Recent literature
• OMIM - Genetic disorder catalog

See How are genetic conditions and genes named? in the Handbook.

The Handbook provides basic information about genetics in clear language.

• What does it mean if a disorder seems to run in my family?
• What are the different ways in which a genetic condition can be inherited?
• If a genetic disorder runs in my family, what are the chances that my children will have the condition?
• Why are some genetic conditions more common in particular ethnic groups?

These links provide additional genetics resources that may be useful.

• Genetics and health
• Resources for Patients and Families
• Resources for Health Professionals

adrenal glands ; autosomal ; autosomal dominant ; cancer ; carcinoma ; gene ; hormone ; leukemia ; mutation ; osteosarcoma ; sarcoma ; tumor ; tumor suppressor gene

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.