Dr. Weitzel on 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 carcinoma​s, 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.