TP53 Genetic Test

A TP53 genetic test uses a sample of your blood, bone marrow, or tissue from a tumor to look for changes in the tumor protein 53 gene, or TP53 for short. Changes in your genes are also called gene variants or mutations. Genes are parts of DNA in your cells that you inherit from your parents.

You inherit two copies of each gene, one from each parent. Genes carry information that controls what you look like and how your body works. TP53 is a type of gene called a 'tumor suppressor.' Tumor suppressor genes provide instructions for making proteins that help prevent or slow the growth of cells that may become tumors.

The proteins work by: Preventing cells from dividing too quickly to make new cells.; Repairing damaged DNA in cells.; Starting the normal process of cell death in cells that can't be repaired.; If you have certain changes in a TP53 gene, the gene or the protein it makes may not work well or may stop working completely. As a result, your cells may grow out of control, which can lead to tumors and cancer. Changes in your TP53 gene can be acquired or inherited.

Acquired changes in your genes are not passed down from your parents. They develop at some time after you're born. These kinds of changes are extremely common, accounting for more than half of all adult cancers.

Where you develop these gene changes, and how likely you are to develop them, depends on a variety of factors. These include: Errors in DNA repair or when cells divide to make new cells. These errors can happen at any time.

However, they become more common with age. They are also more common in some cells than others. For example, TP53 gene changes are especially common in breast tissue cells.; Being exposed to certain carcinogens (substances that increase your likelihood of getting cancer).

For example, exposure to cigarette smoke or diesel exhaust can lead to TP53 gene changes in your lungs. Similarly, exposure to UV radiation from the sun and some artificial sources like tanning beds can lead to these changes in your skin.; Having certain chronic viral infections, such as HPV. These viruses can damage your DNA and lead to TP53 gene changes in your cervix.; Inherited changes in your genes are changes that you're born with.

They show up in all the cells in your body, including your egg or sperm cells. That means they can be passed from parent to child. Inherited changes in the TP53 gene cause a rare genetic condition called Li-Fraumeni syndrome (LFS).

It increases your risk of developing certain types of cancer, including cancer of the breast, bone, and muscles.

Why this test is done

You may need a TP53 genetic test if you have:

• Been diagnosed with cancer.
• A personal and/or family health history suggesting that you may have inherited Li-Fraumeni Syndrome.

If you have been diagnosed with cancer, this test can check whether an acquired change in your TP53 gene is causing it. This information can help your provider select the right treatment and predict how your cancer may behave over time.

If you have a personal and/or family health history that suggests Li-Fraumeni Syndrome, your provider may not only test you, but also some of your family members. Talk with your provider or a genetic counselor about testing if you or your family members have had cancers that are closely linked to this syndrome. These cancers include:

• Osteosarcoma, a form of bone cancer.
• Soft tissue sarcoma, cancer of the muscle and connective tissues.
• Breast cancer.
• Brain tumors.
• Acute (sudden) leukemia.
• Adrenal cortical carcinoma, a type of adrenal gland cancer.

How to prepare

A blood test usually doesn't require any preparation. If you're having a tissue biopsy or a bone marrow test, ask your provider how you should prepare. If you will be given medicine to relax or sleep, plan to have someone take you home after the test in case you are drowsy.

Sample type

Blood Tissue/Biopsy

Other names for this test

TP53 mutation analysis, TP53 full gene analysis, TP53 somatic mutation