Li-Fraumeni syndrome

What causes Li-Fraumeni syndrome?

Approximately 80% of families with the features of Li-Fraumeni Syndrome (LFS) have an identifiable change (mutation) in the TP53 gene. TP53 is a tumor suppressor gene, which means that it encodes a protein that stops cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in TP53 result in a defective protein that is unable to carry out its normal role. This contributes to the development of the many different types of tumors found in LFS.

Last updated on 05-01-20

How is Li-Fraumeni syndrome inherited?

Li-Fraumeni syndrome (LFS) is inherited in an autosomal dominant manner. This means that a person only needs a change (mutation) in one copy of the responsible gene in each cell to have LFS. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene; these cases occur in people with no history of the disorder in their family. A person with LFS has a 50% chance with each pregnancy of passing along the altered gene to his or her child.

Last updated on 05-01-20

Name: American Cancer Society 250 Williams Street NW
Atlanta, GA, 30329, United States
Toll Free: 1-800-227-2345 Url: https://www.cancer.org
Name: CancerCare 275 Seventh Ave, Floor 22
New York, NY, 10001 , United States
Toll Free: 800-813-HOPE Fax : 212-712-8495 Email: info@cancercare.org Url: http://www.cancercare.org/
Name: The National Coalition for Cancer Survivorship 1010 Wayne Avenue Suite 770
Silver Spring, MD, 20910 , United States
Phone: 301-650-9127 Toll Free: 888-650-9127 Fax : 301-565-9670 Email: info@canceradvocacy.org Url: http://www.canceradvocacy.org
Name: Li-Fraumeni Syndrome Association P.O. Box 6458
Holliston, MA, 01746,
Phone: 855-239-LFSA (5372) Email: info@lfsassociation.org Url: http://www.lfsassociation.org/
Name: Living LFS PO Box 1101
O'Fallon, IL, 62269,
Toll Free: 1-844-LFS-CALL (1-844-537-2255) Email: hello@livingLFS.org Url: http://www.livinglfs.org

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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