TP53 (Li-Fraumeni Syndrome): Options for Managing Risk
Risk Management for People with Inherited Mutations
People with mutations have options for managing their increased cancer risk. We recommend that you speak with a genetics expert who can look at your personal and family history of cancer and can help you decide on a plan for managing your risk. Experts at the National Comprehensive Cancer Network (NCCN) created guidelines listed below for people with a mutation to manage their cancer risk.
Note that when we use "female" and "women" we are referring to people assigned female at birth.
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People with a mutation may also qualify for clinical trials looking for more effective screening or prevention for cancer.
In the News
Personal Story : Living a full life 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 management for children
An inherited mutation can increase the risk for cancer beginning during childhood. Risk management for some cancers begins at a young age.
Beginning Age |
Recommendation |
infancy |
Physical exam including neurologic exam every 6–12 months. Special attention should be paid to look for rare cancers. |
infancy |
Yearly whole body MRI - including brain MRI. |
infancy |
Ultrasound to look for adrenal gland cancers every 3-4 months. |
Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, vs. 3 2024. |
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Beginning Age |
Recommendation |
18 |
Physical exam including neurologic exam every 6–12 months. Special attention should be paid to look for rare cancers. |
18 |
Yearly whole body and brain MRI. |
18 |
Yearly skin exam by a dermatologist. |
25 (or younger based on family history) |
Colonoscopy and upper endoscopy every 2–5 years. |
Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, vs. 3 2024. |
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Beginning Age |
Recommendation |
Additional Information |
18 |
Learn to be aware of changes in your breasts. |
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20 (or earlier based on family history) |
Breast exam by doctor every 6-12 months. |
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20 (or earlier based on family history) |
Yearly breast MRI with and without contrast. |
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30 |
Yearly mammogram. |
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75 |
Have a conversation with your doctor about whether you should continue, stop or change breast screening. |
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No set age |
Discuss the benefits, risks and costs of double mastectomy with your doctor. |
Risk-reducing mastectomy lowers breast cancer risk by 90%, but has not been shown to improve survival. Even after double mastectomy, some breast tissue, and therefore cancer risk remains. |
Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, vs. 3 2024. |
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Types of pancreatic cancer screening tests
There are two tests that are used to look for pancreatic cancer in high-risk people.
- MRCP (Contrast-enhanced magnetic resonance cholangiopancreatography) is a special type of imaging that looks closely at the pancreas, liver, gallbladder, bile duct and pancreatic duct to find abnormalities such as cancer.
- EUS (Endoscopic ) involves passing a tiny scope with an attached probe down the esophagus to the stomach. This allows doctors to look closely at the pancreas.
Researchers are testing new approaches to pancreatic cancer screening and prevention through clinical trials.
Participate in research
Pancreatic cancer guidelines
Beginning Age |
Family History |
Recommendation |
50 (or earlier based on the youngest case of pancreatic cancer in the family) |
For TP53 mutation carriers with a first- or second- degree relative with pancreatic cancer. |
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cancer risk
Research suggests that mutations may also increase the risk for cancer. More research is needed to better define the exact risk for people with a mutation.
In addition to the screening guidelines listed below, researchers are testing new approaches to cancer screening and prevention for high-risk people through clinical trials.
Participate in research
cancer screening guidelines
Beginning Age |
Recommendation |
40 |
Annual digital rectal exam and Prostate Specific Antigen (PSA) test. |
Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, vs. 3 2024 |
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Visit our partner
Li-Fraumeni Syndrome Association
LFSA provides information, advocacy and resources for individuals and families with Li-Fraumeni syndrome.Participate in research
The LiFT UP Li-Fraumeni & TP53: Understanding & Progress Study
Clinicaltrials.gov identifier:
NCT04541654
Open Clinical Trials
The following studies are open to people with a mutation.
Whole body screening
- NCT01443468: Clinical and Genetic Studies of . Participants will be monitored for several years, with regular followup visits to the National Institutes of Health, if indicated. Any changes in health or cancer status will be recorded.
cancer
- NCT04472338: Patrol Study. The PATROL study is an early-detection screening study for people at high risk for cancer due to an (including ). Study procedures include annual clinic visit, ( Specific Antigen) blood test, and imaging as deemed necessary by your doctor.
- NCT03805919: Men at High Genetic Risk for Cancer. This is a cancer screening study using in high risk men. This study is open to men with a or other mutation. The aim of the study is to test Whole Body Magnetic Resonance Imaging () to see if cancers can be detected at an early which may, in turn, allow for more effective treatment. The investigators have chosen Whole Body scanning because this scan allows doctors to look at the entire body in one examination. By using this technology, participants are not exposed to radiation, which is of particular importance for individuals who have a higher cancer risk due to a diagnosis of LFS.
Pancreatic cancer
- NCT02206360: Pancreatic Cancer Early Detection Program. This pancreatic cancer screening study uses esopheal to screen for pancreatic cancer in high risk people. The study is open to people with a mutation or other mutation linked to increased cancer risk who also have a family history of pancreatic cancer.
- NCT03568630: Blood Markers of Early Pancreas Cancer. This pancreatic cancer study involves blood samples over time to look for biomarkers of pancreatic cancer in high risk people. The study is open to people with a mutation or other mutation 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 more about adults and children who have a change in the gene in their blood to better predict their specific cancer risks.
- NCT04367246: Li-Fraumeni Syndrome/TP53 Biobank. The researchers will use this biobank to learn more about the cancers that develop in people with 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.