Li-Fraumeni SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Li-Fraumeni Syndrome
Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.
Li-Fraumeni syndrome is associated with mutations in the TP53 gene. Nearly three-quarters of families with Li-Fraumeni syndrome and about one-quarter with Li-Fraumeni-like syndrome have germline mutations in the TP53 gene. Germline mutations are typically inherited and are present in essentially every cell in the body. TP53 is a tumor suppressor gene, which means that it normally helps control the growth and division of cells. Mutations in this gene can allow cells to divide in an uncontrolled way and form tumors. Other genetic and environmental factors are also likely to affect the risk of cancer in people with TP53 mutations.
Li-Fraumeni syndrome is thought to occur in 1 in 5,000 to 1 in 20,000 people worldwide.
Li-Fraumeni syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing cancer. Most people with Li-Fraumeni syndrome inherit an altered copy of the gene from an affected parent. In 7 to 20 percent of cases, however, the altered gene is the result of a new (de novo) mutation in the gene that occurred during the formation of reproductive cells (eggs or sperm) or very early in development.
Rena Rowan Breast Center
Kara Maxwell is an Oncologist in Philadelphia, Pennsylvania. Dr. Maxwell is rated as an Elite provider by MediFind in the treatment of Li-Fraumeni Syndrome. Her top areas of expertise are Li-Fraumeni Syndrome, Breast Cancer, Prostate Cancer, and BRCA Positive Breast Cancer. Dr. Maxwell is currently accepting new patients.
Texas Health Breast Specialists
Dr. Radha Iyengar is the medical director of the Breast Center at Texas Health Presbyterian Hospital Allen. She obtained her undergraduate and medical degrees from the University of Florida and went on to complete a general surgery residency at the University of Texas Southwestern Medical School in Dallas. She then completed a Society of Surgical Oncology accredited breast fellowship at Emory University in Atlanta before returning to Texas.Dr. Iyengar is board-certified by the American Board of Surgery and is a Fellow of the American College of Surgeons. She is a member of the American College of Surgeons, Dallas Medical Society, American Society of Breast Surgeons, American Society of Breast Disease and American Society of Clinical Oncology. Dr. Iyengar is rated as an Advanced provider by MediFind in the treatment of Li-Fraumeni Syndrome. Her top areas of expertise are Breast Cancer, Paget Disease of the Breast, Inflammatory Breast Cancer, Intraductal Papilloma, and Lymphadenectomy.
David Malkin practices in Toronto, Canada. Mr. Malkin is rated as an Elite expert by MediFind in the treatment of Li-Fraumeni Syndrome. His top areas of expertise are Li-Fraumeni Syndrome, Choroid Plexus Carcinoma, Cerebral Ventricle Cancer, and Rhabdomyosarcoma.
Summary: NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility...
Background: \- Researchers are interested in studying individuals who have known or suspected metabolic, inflammatory or genetic diseases that may put them at a high risk for heart diseases or diseases of their blood vessels. Depending on the condition being studied, both affected and nonaffected individuals may be asked to provide blood and other samples and may undergo tests to evaluate the heart, blood ves...
Published Date: June 01, 2020
Published By: National Institutes of Health