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Li-Fraumeni syndrome overview

Updated: July 27, 2009

The Li-Fraumeni syndrome (LFS) is a rare, autosomal dominant cancer predisposition syndrome that is remarkable for the wide variety of cancer types involved, the young age at onset of malignancies, and the potential of multiple primary sites of cancer during the lifetime of affected individuals. Families meet the criteria for LFS with a minimum of 3 affected members.


Clinical criteria

  • A proband diagnosed with sarcoma before age 45 years
  • A first-degree relative with any cancer diagnosed before age 45 years
  • Another first-degree or second-degree relative of the same genetic lineage with any cancer diagnosed before age 45 years or sarcoma at any age.

Lab diagnosis

DNA analysis: Evaluation for constitutional p53 mutation in cancer patients with family history or presentation suggestive of potential LFS cancer predisposition is warranted to aid in predicting future risk of other primary malignancies for the patient and other family members.

Although the majority of reported LFS-related p53 mutations occur in exons 5-8, optimal DNA analysis should include evaluation of the entire coding and noncoding portions of the gene (exons 1-11) by automated sequencing methods.

Since p53 mutations are constitutional (i.e. germline), DNA derived from any clinical source can potentially be evaluated. Peripheral blood leukocytes are the most easily obtained source, typically collected in citrate or heparin anticoagulant tubes.

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