- Hereditary Breast and Ovarian Cancer syndrome (HBOC)
- Lynch syndrome/Hereditary Non-Polyposis Colorectal Cancer (HNPCC)
- Familial Adenomatous Polyposis (FAP)/Attenuated Familial Adenomatous Polyposis (AFAP)
- MUTYH-associated Polyposis syndrome (MAP)
- MUTYH-associated Colon Cancer Risk
- Melanoma Cancer Syndrome (MCS)
- Li-Fraumeni Syndrome (LFS)
- PTEN Hamartoma Tumor syndrome (PHTS)
- Peutz-Jeghers Syndrome
- Hereditary Diffuse Gastric Cancer (HDGC) Syndrome
- Juvenile Polyposis Syndrome (JPS)
- Juvenile Polyposis Syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT)
- PALB2-associated Cancer Risk
- CHEK2-associated Cancer Risk
- ATM-associated Cancer Risk
- NBN-associated Cancer Risk
- BARD1-associated Cancer Risk
- BRIP1-associated Cancer Risk
- RAD51C-associated Cancer Risk
- RAD51D-associated Cancer Risk
- Polymerase Proofreading-associated Syndrome (PPAS)
- Hereditary Mixed Polyposis Syndrome (HMPS)
Li-Fraumeni Syndrome (LFS) TP53 ASSOCIATED CANCER RISKS
Li-Fraumeni Syndrome (LFS)
TP53 ASSOCIATED CANCER RISKS
What does it mean to have a TP53 gene mutation, and a diagnosis of Li-Fraumeni Syndrome (LFS)?
People with mutations in the TP53 gene have a condition called Li-Fraumeni Syndrome, or LFS. People with LFS have a high risk for many different types of cancer. These cancers can develop at young ages, including childhood. TP53 mutations are often found in women who have developed breast cancer under age 30. Many people with LFS will be diagnosed with cancer 2 or more times during their lifetime.
Many of the cancers that are seen in people affected by LFS are quite rare for people who do not have LFS. Some of these cancers include: cancers of the adrenal gland, the choroid plexus (a part of the brain), and bone and muscle sarcomas. In addition to these unusual cancers, people with LFS have higher risks for more common cancers, like female breast cancer, colorectal cancer, and leukemia.
What can be done to protect people with LFS from cancer?
The National Comprehensive Cancer Network (NCCN) provides recommendations for lowering the risk of cancer in men and women with LFS. These recommendations include starting screening at younger ages and having screenings more often. For example, colonoscopies to check for colon cancer should begin at age 25 or younger, and should be done every 2 to 5 years. Women with LFS should begin breast screening in their 20’s, and should have MRIs instead of, or in addition to, mammograms. The risk of breast cancer in women with LFS is very high, and in some cases it may even be reasonable to consider surgery to remove the breasts before cancer can develop.
As mentioned earlier, people with LFS have a high risk for many different types of cancer, even in childhood. Some of these cancers are hard to detect. Research is now being done to develop ways to find these cancers as early as possible, when treatment is most likely to be successful. Available results from these studies have been encouraging. For more information about research studies, talk to your provider.
The gene that is altered in people with LFS, the TP53 gene, helps to repair DNA damaged by radiation. People with defects in the TP53 gene are more sensitive to radiation. Therefore, people with LFS should avoid exposure to radiation except when absolutely necessary.
Because LFS is associated with many different cancer risks, it is recommended that people with mutations in the TP53 gene be cared for by healthcare professionals with experience in treating this condition. A list of centers that have specialized knowledge and experience with LFS is available within our Support Organizations pages.
Additional details about TP53 gene mutations and LFS, including information about the risks for different kinds of cancer, specific recommendations for medical care, and useful information for relatives of people who have a diagnosis of LFS, are available within our Support Organizations page
The requested URL /services/clinical-summaries/gene/TP53/1/html/1/MyriadPro/1 was not found on this server.