March 20th is Li-Fraumeni Syndrome Awareness Day

Li-Fraumeni syndrome (LFS) is one of 7,000 rare diseases that affect 25-30 million Americans. It is estimated that over 500 families in the U.S. and over 1,000 multigenerational families worldwide have Li-Fraumeni syndrome. Li-Fraumeni syndrome is linked to a mutation in the TP53 tumor suppressor gene, which provides instructions for making tumor protein p53. Sometimes called the “Guardian of the Genome,” the TP53 gene is vital in preventing cancer from forming. TP53 is also the most frequently mutated gene in human cancer. If we unlock Li-Fraumeni syndrome, we could unlock cancer.  People with a TP53 mutation have a significantly increased risk of developing cancer over their lifetime. LFS affects each individual differently, even within the same family. Learn more about LFS. Originally known as sarcoma, breast, leukemia and adrenal gland (SBLA) syndrome, Li-Fraumeni syndrome or LFS is named after Dr. Frederick Pei Li and Dr. Joseph F. Fraumeni, Jr., two American physicians who in 1967 began making the connections between specific cancers in certain families. Now more than 50 years later, through the passions and efforts of many researchers and clinicians around the world, the history, the various functions of p53, and its connection to Li-Fraumeni syndrome are still being uncovered. Learn more about the history of LFS.