Hereditary Cancer and Genetic Testing

Cancer risk associated with an inherited TP53 mutation

If you have tested positive for a TP53 mutation, we recommend that you consult with a genetics expert who can assess your personal and family history of cancer and can help you determine the best risk management plan.

People with a TP53 mutation are at increased risk for many cancers. The following are the risks for the most common cancers in people with Li-Fraumeni syndrome:

  • breast cancer (about a 60% lifetime risk for women)
  • soft tissue sarcoma (up to 15% for women; 22% for men)
  • osteosarcoma or bone cancer (up to 5% for women; 11% for men)
  • brain tumors (up to 6% for women; 19% for men)
  • adrenal gland cancer
  • colorectal cancer

     


Childhood cancer risk

Many of the cancers seen in Li-Fraumeni syndrome occur particularly early in life, including in children and young adults: 

  • 4% of babies will develop cancer in their first year of life
  • 22% will develop cancer by age 5
  • 41% of children will develop cancer by age 18

Research has shown that Li-Fraumeni syndrome plays a role in many childhood cancers, including:

  • 80% of rhabdomyosarcoma with diffuse anaplasia
  • 50% of childhood adrenocortical carcinoma  
  • 40% of choroid plexus carcinoma
  • 40% of low-hypodiploid acute lymphoblastic leukemia
  • 10% of Sonic Hedgehog subtype medulloblastoma
  • 10% of childhood osteosarcoma 
find-support

If you are a person with a TP53 mutation, you can find peer support through the following resources:

  • Register for the FORCE Message Boards to connect with others who share your situation. Once you register, you can post on the Share Your Mutation board to connect with other people who carry an TP53 mutation.
  • FORCE's Peer Navigation Program will match you with a volunteer who shares your mutation and situation and provide you with a free resource guide. 
  • Li-Fraumeni Syndrome Association is a nonprofit organization that connects people to information and peer support.
clinical-trials

NCT02665195: Prospective Registry Of MultiPlex Testing (PROMPT). PROMPT is an online research registry. The goal of PROMPT is to help researchers to better understand the risks that are linked to mutations in less well-studied genes. People with TP53 mutations can enroll in PROMPT to help researchers learn more about cancer risks. 

Last updated September 24, 2021