| 1 | TP53 mutation | Your testing shows that you have a pathogenic mutation or a variant that is likely pathogenic in the TP53 gene. |
| 2 | Li-Fraumeni syndrome | People with TP53 mutations have Li-Fraumeni syndrome (LFS). TP53 is often also called by its older name “p53.” |
| 3 | Cancer risks | You have an increased chance to develop soft tissue sarcoma, osteosarcoma, female breast cancer, brain tumors, adrenocortical carcinoma (ACC), leukemia, and potentially other types of cancer. |
| 4 | What you can do | There are risk management options to detect cancer early or lower the risk to develop cancer. It is important to discuss these options with your doctor, and decide on a plan that best manages cancer risks. |
| 5 | Family | Family members may also be at risk – they can be tested for the TP53 mutation that was identified in you. |
There is a 50/50 random chance to pass on a TP53 mutation to your sons and daughters. The image to the right shows that both men and women can carry and pass on these mutations.
| Result | mutation | Your testing shows that you have a pathogenic mutation (a disease-causing change in the gene, like a spelling mistake) or a variant that is likely pathogenic in the TP53 gene. Both of these results should be considered positive. |
| Gene | TP53 | Everyone has two copies of the TP53 gene, which we randomly inherit from each of our parents. Mutations in one copy of the TP53 gene can increase the chance for you to develop certain types of cancer in your lifetime. |
| Condition | LFS | People with TP53 mutations have Li-Fraumeni syndrome (LFS). |
| Cancer Risks | Increased | You have an increased chance to develop soft tissue sarcoma, osteosarcoma, female breast cancer, brain tumors, adrenocortical carcinoma (ACC), leukemia, and potentially other types of cancer such as prostate cancer. The chance for cancer in your lifetime may be more than 90%. |
| Other Medical Concerns | radiation | Avoidance of exposure to radiation therapy is recommended, when possible, to reduce the risk of radiation-induced cancers |
| Management Options | for women | Options for early detection and prevention for women may include: breast exam, mammogram, breast MRI, and options for preventive surgery. Talk to your doctor about what options may be right for you. |
| Management Options | for men & women | Options for screening and early detection for men and women may include: comprehensive physical exam, rapid whole body MRI, colonoscopies, or other options depending on your personal and family history. Talk to your doctor about what options may be right for you. |
| Risk Management | varies | Risk management decisions are very personal, and the best option depends on many factors. Screening typically begins earlier than the general population and is often more frequently performed. It is important to discuss these options with your doctor. |
| Family Members | 50/50 chance | Your close relatives (like your parents, brothers, sisters, children) have a 50/50 random chance of inheriting the TP53 mutation that you carry, and other family members (like your aunts, uncles, cousins) may also inherit it. Your relatives can be tested for this same mutation. Depending on the family history, those who DO NOT have it may not have an increased chance (above the general population) to develop cancer. |
| Next Steps | discuss | It is recommended that you share this information with family members so they can learn more and discuss this with their healthcare providers. |
| Reach Out | resources |
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Please discuss this information with your healthcare provider. The cancer genetics field is continuously evolving, so updates related to your TP53 result, medical recommendations, and/or potential treatments may be available over time. This information is not meant to replace a discussion with a healthcare provider, and should not be considered or interpreted as medical advice.