Jefferson Health

Li-Fraumeni Syndrome

Your chances of developing breast cancer are increased if you are diagnosed with Li-Fraumeni syndrome (LFS). LFS is a genetic autosomal dominant cancer syndrome. There are three conditions in your family that must be present for the diagnosis to be made:

  • Sarcoma at less than 45 years of age
  • A first-degree relative with cancer at less than 45 years of age
  • A first- or second-degree relative with cancer at less than 45 years of age or sarcoma at any age

The majority of LFS (about 70 percent) is caused by mutations in a gene on chromosome 17 known as p53, which is a tumor suppressor gene.

If you suspect that you may be predisposed to Li-Fraumeni syndrome, turn to the genetics experts of Jefferson's Clinical Cancer Genetics Service.

Our genetics experts are dedicated to identifying and managing individuals with a known or suspected inherited predisposition to cancer. The Service is staffed by a multidisciplinary team of genetic counselors, oncology nurses, surgeons, molecular geneticists, a clinical geneticist and others.

Family history is the primary indicator of an inherited risk for cancer. Our staff will evaluate your family history and develop a written risk assessment and a cancer screening program for you and your at-risk family members.

Evaluation is available to anyone who is concerned about a family history of cancer or a personal history of early-onset cancer. If it is determined that you have an increased risk or an inherited risk, we can provide information and guidelines that will assist you and your family in the prevention and early detection of cancer.

We also work together with the world-renowned researchers of the Sidney Kimmel Cancer Center in developing and offering research protocols in the areas of cancer genetics and chemo prevention. As a National Cancer Institute (NCI)-designated cancer center, the staff of the Sidney Kimmel Cancer Center is home to renowned cancer physicians and research scientists.