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Genetic and Rare Diseases Information Center (GARD)

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Li-Fraumeni syndrome

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Other Names for this Disease
  • LFS1
  • Li Fraumeni syndrome
  • Sarcoma family syndrome of Li and Fraumeni
  • SBLA syndrome (Sarcoma, Breast, Leukemia, and Adrenal Gland)
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

If my father had a TP53 mutation, does that mean all his children have the mutation or each has a 50% chance of having it?  If my father had the mutation and I do not have it, do my own children have a chance of having it or are they and all successive generations in the clear?  If my family clearly meets the criteria for diagnosing this condition, but no one demonstrates the TP53 mutation in genetic testing, is it possible to determine if a given relative never diagnosed with cancer has the predisposition?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

If a parent has Li-Fraumeni syndrome, what is the chance that a child could inherit this condition?

If a parent has Li-Fraumeni syndrome (LFS) and the diagnosis is confirmed through genetic testing (identification of a mutation in the TP53 gene), each of his/her children has a 50% chance of inheriting the TP53 mutation and being affected by LFS. If the child does not inherit the TP53 mutation previously identified in the parent, he/she does not have LFS and cannot pass the condition on to future generations.[1]
Last updated: 3/11/2015

If a family history of cancer meets criteria for Li-Fraumeni syndrome but no TP53 mutation is found on genetic testing, is it possible to determine if a relative has the condition?

If a family history of cancer meets criteria for Li Fraumeni syndrome (LFS) but no TP53 mutation is found on genetic testing, there is no way to know with certainty which relatives may have inherited the predisposition to develop cancer. If full testing of the TP53 gene is completed (including sequence analysis of the entire gene and testing for missing or extra portions within the gene), a mutation will be identified in 80% of families that meet criteria.[1] If no TP53 mutation is identified but the family history is suggestive of LFS, the National Comprehensive Cancer Network (NCCN) considers cancer-free family members to be at risk for having a predisposition to cancer and recommends that these relatives pursue careful cancer screening based on the family history of cancer.[2]

In a family that meets criteria for LFS but lacks an identified TP53 mutation, those relatives who live to their 50s and 60s without developing cancer are unlikely to have inherited the predisposition to cancer because the chance of developing cancer in this condition is quite high at young ages.[1]
Last updated: 3/11/2015

References
  • Katherine Schneider, MPH, Kristin Zelley, MS, Kim E Nichols, MD, and Judy Garber, MD, MPH. Li-Fraumeni Syndrome. GeneReviews. April 2013; http://www.ncbi.nlm.nih.gov/books/NBK1311/.
  • Mary B. Daly, MD, PhD; Robert Pilarski, MS, CGC. Genetic/Familial High-Risk Assessment: Breast and Ovarian. National Comprehensive Cancer Network. February 2014; Accessed 3/10/2015.
Other Names for this Disease
  • LFS1
  • Li Fraumeni syndrome
  • Sarcoma family syndrome of Li and Fraumeni
  • SBLA syndrome (Sarcoma, Breast, Leukemia, and Adrenal Gland)
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.