Living a full life with Li-Fraumeni syndrome
https://www.facingourrisk.org/XRAY/living-with-LFS
Full article: https://www.uchealth.org/today/defeating-5-cancers-living-with-li-fraumeni-syndrome/
This XRAY review is about a five-time cancer survivor who has an inherited mutation in the TP53 gene. People with inherited mutations in TP53 have Li-Fraumeni syndrome, which is linked to a very high lifetime risk for many types of cancer. Here we share his inspiring story and provide more information on Li-Fraumeni syndrome. (Posted 4/16/24)
Este artículo está disponible en español.
Questions To Ask Your Health Care Provider
- Do you have experience managing care for people with TP53 mutations?
- If not, can you refer me to a center that does?
- Do you recommend genetic testing to determine whether I have a hereditary mutation?
- If I test positive for a hereditary cancer gene mutation, how will you work with me to prevent cancer or find it early?
- Do you follow national guidelines for monitoring people with Li-Fraumeni syndrome?
Open Clinical Trials
The following studies are open to people with a TP53 mutation:
Whole body screening
- NCT01443468: Clinical and Genetic Studies of Li-Fraumeni Syndrome. This study monitors participants for several years, with regular follow-up visits to the National Institutes of Health, if indicated. Researchers will record any changes in health or cancer status.
Prostate cancer
- NCT04472338: Patrol Study. This early-detection screening study monitors people at high risk for prostate cancer due to an inherited mutation, including TP53. Study procedures include an annual clinic visit, a prostate-specific antigen blood test and prostate imaging as deemed necessary by your doctor.
- NCT03805919: Men at High Genetic Risk for Prostate Cancer. This study tests a relatively new medical technology called Whole Body Magnetic Resonance Imaging (MRI) to see if prostate cancers can be detected at an early stage in undiagnosed high-risk men who have an inherited mutation in TP53 or other genes. Whole Body MRI scanning allows doctors to look at the entire body in one examinationwithout exposing individuals to radiation.
Pancreatic cancer
- NCT03568630: Blood Markers of Early Pancreas Cancer. This pancreatic cancer study involves blood samples taken over time to identify biomarkers of pancreatic cancer in high-risk people. The study is open to people with a TP53 mutation or other mutations linked to increased cancer risk.
Registries
- NCT04541654: The LiFT UP Li-Fraumeni & TP53: Understanding & Progress Study. The LiFT UP Study is a research project for individuals and families from around the world to learn how to to better predict the specific cancer risks of adults and children who have a change in the TP53 gene in their blood.
- NCT04367246: Li-Fraumeni Syndrome/TP53 Biobank. Researchers will use this biobank to learn more about the cancers that develop in people with TP53 mutations, how the cancers form and look for new targets for preventing or treating cancers in people with this syndrome.
Visit our Research Search and Enroll Tool to find additional cancer prevention and screening studies.
About FORCE
FORCE is a national nonprofit organization, established in 1999. Our mission is to improve the lives of individuals and families affected by adult hereditary cancers.