Jeffery Weitzel, MD, discusses the identification of Li-Fraumeni syndrome.
Jeffery Weitzel, MD, director, Division of Clinical Cancer Genomics, Department of Population Sciences; director, Cancer Screening & Prevention Programs Network; director, Cancer Genomics Education Program; professor of medicine, Department of Medical Oncology & Therapeutics Research and Department of Population Sciences, City of Hope, discusses the identification of Li-Fraumeni syndrome (LFS).
Li-Fraumeni syndrome is a rare inherited familial predisposition to a multitude of cancers, says Weitzel. The syndrome is caused by a mutation in the TP53 gene.
Notably, this syndrome is associated with a severe phenotype and high prevalence in children and young adults under the age of 20, Weitzel explains. In children, LFS tends to cause brain tumors, adrenocortical carcinomas, and soft tissue or bone sarcomas.
Conversely, in young adults, LFS is associated with early onset breast cancer; however, for patients over 30 years of age, this syndrome is less problematic, Weitzel concludes.