Li-Fraumeni syndrome

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Disease Overview

Li-Fraumeni syndrome (LFS) is an inherited condition that is characterized by an increased risk for certain types of cancer. Affected people often develop cancer at an earlier age than expected and may be diagnosed with more than one cancer during their lifetime. LFS is primarily associated with sarcomas (cancers of muscle, bone or connective tissue), breast cancer, brain tumors, leukemia and adrenocortical carcinoma; however, many other types of cancer have been reported in people with this condition.[8482][8483] It is caused by changes (mutations) in the TP53 gene and is inherited in an autosomal dominant manner.[8482] Management may include high-risk cancer screening and/or prophylactic surgeries.[8482][8118]


Synonyms

  • Sarcoma family syndrome of Li and Fraumeni
  • SBLA syndrome (Sarcoma, Breast, Leukemia, and Adrenal Gland)
  • LFS1
  • Li Fraumeni syndrome

For more information, visit GARD.

National Organization for Rare Disorders