Awareness Day for Li-Fraumeni Syndrome: 5/3 for TP53
, by DCEG Staff
Germline pathogenic variants in the tumor suppressor gene, TP53, are the primary cause of Li-Fraumeni syndrome (LFS). The Li-Fraumeni Syndrome Association (LFSA), a national patient advocacy non-profit organization, selected 5/3—May 3rd—as International LFS Awareness Day, playing off the name of the gene responsible. The virtual event aimed to share information, educate the public, as well as provide support for individuals and families with LFS, the providers who care for them, and the researchers who are dedicated to ending early cancer deaths for those with LFS. The LFSA developed a free, online toolkit of materials for families living with LFS, researchers, providers, and health educators. The inaugural event was dedicated to the researchers who identified LFS in 1969 at the NCI: Drs. Frederick Li and Joseph F. Fraumeni, Jr. Sharon A. Savage, M.D., Chief of the Clinical Genetics Branch serves as the Federal resource for “5/3 for p53.”
DCEG co-sponsored the event to raise awareness across the country and around the world, in scientific and medical communities as well as the general public. While LFS often presents in families across multiple generations, recent work by DCEG investigators discovered a higher-than-expected rate of germline TP53 pathogenic variants in patients with osteosarcoma—a sentinel LFS malignancy. Genetic testing of people with cancers presenting at younger than usual ages could afford the opportunity for their relatives to also be tested in order to tailor treatment decisions and cancer screening to the individual.
At present, DCEG investigators have an ongoing clinical study of Li-Fraumeni Syndrome at the NIH Clinical Center, as well as across the country and internationally. Learn more about the LFS study.