USMLE

Li-Fraumeni Syndrome (LFS)

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Autosomal Dominant Diseases
  1. Marfan Syndrome
  2. Li-Fraumeni Syndrome (LFS)
  3. Achondroplasia
  4. Job (Hyper IgE) Syndrome
  5. HHT
  6. Hereditary Spherocytosis
  7. von Hippel-Lindau (VHL)
  8. MEN 1
  9. MEN 2
  10. Von Recklinghausen Disease (NF I)
  11. Neurofibromatosis Type II (NF II)
  12. Myotonic Dystrophy
  13. ADPKD

Li-Fraumeni Syndrome (LFS) is an inherited predisposition to a wide range of cancers.

It is caused by a mutation in TP53, which encodes the p53 tumor suppressor protein. As TP53 is a tumor suppressor gene, it follows the two-hit hypothesis, which states that mutations on both alleles are required for disease. Patients with LFS are born with one dysfunctional copy, and a spontaneous mutation in the other can lead to the development of many cancers.

Cancer types commonly seen in Li-Fraumeni Syndrome affect the SBLA locations: sarcoma, breast, leukemia, and adrenal gland.

Find Li-Fraumeni Syndrome and other Autosomal Dominant Diseases among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.