Li-Fraumeni Syndrome (LFS)
Autosomal Dominant Diseases
- Marfan Syndrome
- Li-Fraumeni Syndrome (LFS)
- Job (Hyper IgE) Syndrome
- Hereditary Spherocytosis
- von Hippel-Lindau (VHL)
- MEN 1
- MEN 2
- Von Recklinghausen Disease (NF I)
- Neurofibromatosis Type II (NF II)
- Myotonic Dystrophy
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.