TP53 Genetic Test
Reviewed
Also called: TP53 mutation analysis, TP53 full gene analysis, TP53 somatic mutation
This test looks for changes (variants or mutations) in the TP53 gene, a tumor suppressor gene. Changes can be acquired (somatic) or inherited (germline). Acquired changes are common in many adult cancers and may guide treatment. Inherited changes cause Li-Fraumeni syndrome (LFS), a rare condition that increases cancer risk. The test is not routine and is used when cancer is present or when personal/family history suggests LFS.
Specimen: blood, bone marrow, or tumor tissue
Why this test may be ordered
- To help choose treatment for people who have cancer
- To check for inherited TP53 changes in people with a personal or family history of cancers linked to Li-Fraumeni syndrome
Preparation and collection
A blood test usually requires no preparation. For a tissue biopsy or bone marrow test, ask your provider how to prepare. If you will receive medicine to relax or sleep, arrange for someone to drive you home.
Blood sample from a vein; tumor tissue removed during a biopsy (needle, surgery, or endoscopy); bone marrow sample from the back of the hip bone (aspiration and biopsy).
Blood test: very little risk; slight pain or bruising at the needle site. Tissue biopsy or bone marrow test: soreness where the sample was taken, usually lasting a few days.
Understanding results
Your healthcare provider will interpret your results. The following patterns are based on the information provided by MedlinePlus.
- Acquired (somatic) TP53 gene change detected: A change in the TP53 gene was found in your cancer cells. This information may help your provider choose the right treatment and predict how your cancer may behave. Limitation: This result does not indicate an inherited condition. It applies only to the tested tumor tissue. Next step: Prompt
- Inherited (germline) TP53 gene change detected: You have Li-Fraumeni syndrome (LFS). This does not mean you have cancer, but your risk of developing certain cancers is higher than most people. Limitation: This result is based on testing of blood or other non-tumor tissue. It does not diagnose cancer. Next step: Prompt
- No TP53 gene change detected: No changes in the TP53 gene were found in the tested sample. This may reduce the likelihood of Li-Fraumeni syndrome or a TP53-driven cancer, depending on the reason for testing. Limitation: A negative result does not rule out all genetic causes of cancer or Li-Fraumeni syndrome. Other genes or non-genetic factors may be involved. Next step: Routine
- This test is not a routine screening test.
- Acquired TP53 changes are extremely common in adult cancers and do not indicate an inherited condition.
- Inherited changes are rare and require genetic counseling for interpretation and family planning.
- A negative result does not eliminate the possibility of cancer or other genetic risks.
What to do next
If you have an inherited TP53 change, talk with your provider about cancer risk management, including frequent screening, yearly physical exams, lifestyle changes, chemoprevention, or preventive surgery. Consider genetic counseling for yourself and family members.
- What does my result mean for my cancer treatment or risk?
- Should I or my family members see a genetic counselor?
- What cancer screening or prevention steps are right for me?