What Is the TP53 Gene?
TP53 is a gene located on chromosome 17 that, when normal, stops cells from growing and dividing.
You can inherit a TP53 mutation from your parents or develop one later in life.
An inherited TP53 mutation may lead to Li-Fraumeni syndrome (LFS). Scientists have identified at least 140 different mutations in the TP53 gene in people with LFS. (1)
If You Carry a TP53 Gene Mutation, What Cancers Are You at Risk For?
While LFS is a rare condition, it can increase your risk of developing certain cancers at a young age, such as:
- Breast cancer
- Bone cancer
- Soft tissue cancers
- Colorectal cancer
- Lung cancer
- Cancer of the adrenal gland
TP53 mutations that are acquired later in life are much more common. These are also known as “somatic” mutations and are found in about half of all cancer cases. (2)
How Does TP53 Increase Your Risk of Cancer?
TP53 is a tumor suppressor gene. Just as the brakes in your car stop you from going too fast, TP53 stops the cells in your body from dividing too quickly.
But when a mutation happens, the gene can’t control the growth of cells, which can lead to cancer. (2,3)
Can You Be Tested for TP53?
Yes, a TP53 genetic test can help doctors identify mutations in the gene. It’s usually done by analyzing a person’s blood or bone marrow.
This isn’t a routine test and is usually given only to certain individuals who have a family history or are at high risk of having a mutation. (2)
Why Is It Important to Know if You Carry a TP53 Mutation?
Anyone with a family history of TP53 mutations may be affected. More specifically, a parent with a mutation has a 50 percent chance of passing it on to his or her child. (4)
Your doctor might recommend a TP53 genetic test if:
- You have one or more family members with LFS.
- You have one or more family members who’ve had cancer before age 45.
- You have been diagnosed with certain cancers or tumors before age 46. (2)
History of the TP53 Gene: When Was It Discovered?
The p53 gene was discovered in 1979 by David Lane, PhD, and Lionel Crawford. The scientists uncovered the gene while investigating a monkey virus that was known to cause cancer in mouse cells. TP53, the human gene that encodes p53, was officially discovered in 1984. (5,6)
What Do You Do if You Test Positive for TP53?
If you know you have a TP53 mutation, you and your doctor can plan specific screening and prevention strategies.
Having LFS doesn’t mean you have cancer, but it does mean you have a higher risk.
Your healthcare provider might suggest that you have more frequent cancer screenings than someone who doesn’t have this gene mutation. For example, the American Society of Clinical Oncology recommends colonoscopies beginning at age 25 or younger to be performed every two to five years for people with LFS. (7)
Additionally, your doctor might decide to remove any “at-risk” tissue or recommend chemoprevention, which means you take certain medicines or vitamins to reduce your chances of developing cancer.
You may also want to incorporate certain lifestyle changes, such as eating a healthy diet and exercising daily, into your routine. (2)