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Li-Fraumeni syndrome
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Li-Fraumeni syndrome

Reviewed January 2007

What is Li-Fraumeni syndrome?

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

The cancers most often associated with Li-Fraumeni syndrome include breast cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues (such as muscle) called soft tissue sarcomas. Other cancers commonly seen in this syndrome include brain tumors, cancers of blood-forming tissues (leukemias), and a cancer called adrenocortical carcinoma that affects the outer layer of the adrenal glands (small hormone-producing glands on top of each kidney). Several other types of cancer also occur more frequently in people with Li-Fraumeni syndrome.

A very similar condition called Li-Fraumeni-like syndrome shares many of the features of classic Li-Fraumeni syndrome. Both conditions significantly increase the chances of developing multiple cancers beginning in childhood; however, the pattern of specific cancers seen in affected family members is different.

How common is Li-Fraumeni syndrome?

The exact prevalence of Li-Fraumeni is unknown. One U.S. registry of Li-Fraumeni syndrome patients suggests that about 400 people from 64 families have this disorder.

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 Li-Fraumeni syndrome 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 this gene can allow cells to divide in an uncontrolled way and form tumors. 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 and Li-Fraumeni-like syndrome do not have TP53 mutations, but have mutations in the CHEK2 gene. Like the TP53 gene, CHEK2 is a tumor suppressor gene. Researchers are uncertain whether CHEK2 mutations actually cause these conditions or are merely associated with an increased risk of certain cancers (including breast cancer).

Read more about the CHEK2 and TP53 genes.

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 a parent and other family members with cancers characteristic of the condition.

Where can I find information about treatment for Li-Fraumeni syndrome?

These resources address the management of Li-Fraumeni syndrome and may include treatment providers.

You might also find information on treatment of Li-Fraumeni syndrome in Educational resources and Patient support.

Where can I find additional information about Li-Fraumeni syndrome?

You may find the following resources about Li-Fraumeni syndrome helpful. These materials are written for the general public.

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

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

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

What if I still have specific questions about Li-Fraumeni syndrome?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding Li-Fraumeni syndrome?

adrenal glands ; autosomal ; autosomal dominant ; cancer ; carcinoma ; cell ; gene ; hormone ; kidney ; leukemia ; mutation ; osteosarcoma ; prevalence ; sarcoma ; soft tissue ; syndrome ; tissue ; tumor ; tumor suppressor gene

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

References (9 links)


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Reviewed: January 2007
Published: January 23, 2009