TP53 Genetic Test


What is TP53 Genetic Test?

TP53 Genetic Test is a type of genetic testing that can predict an individual’s risk of developing cancer due to a mutation in the TP53 gene. The two conditions that are most linked to TP53 mutations are inherited Li-Fraumeni Syndrome (LFS) and Li-Fraumeni-like Syndrome (LFL).

Preparation for a TP53 Genetic Test

Generally, no special preparation is required for this test. Your doctor may ask you to fast overnight or for an extended period. In most cases, however, a regular blood sample taken from a vein in your arm will be enough. If it is an exome sequencing test, the doctor may take a swab from the inside of your cheek.

Procedure for a TP53 Genetic Test

First, the doctor will draw a sample of blood or a cheek swab, depending on the type of test being performed. The sample is then sent to a laboratory where it is analyzed to determine if the TP53 gene has mutated. If a mutation is detected, further testing may be done to confirm the results.

Types of TP53 Genetic Tests

  • Somatic Mutation Testing – Somatic mutation testing looks for TP53 mutations in cancer cells. It is used to determine the aggressiveness of a cancer and to decide which treatment options may be best.
  • Inherited Mutation Testing – Inherited mutation testing looks for mutations in non-cancer cells. It is used to determine if an individual has a genetic predisposition for cancer.
  • Exome Sequencing – Exome sequencing tests all of the genes in an individual’s exome, which is the 1% of the genome that codes for proteins. It is used to detect variations in the TP53 gene that may be linked to cancer.

Risks Associated With a TP53 Genetic Test

There are no significant risks associated with a TP53 genetic test. The only risk is that of discomfort associated with the blood draw or swab. Additionally, some individuals may find that learning about their increased risk of cancer can be emotionally difficult.

When to Consider Getting a TP53 Genetic Test

It is recommended that individuals with a family history of cancer, especially those with multiple family members who have been diagnosed with cancer, consider getting a TP53 genetic test. Additionally, individuals with suspected Li-Fraumeni Syndrome or Li-Fraumeni-like Syndrome should seek genetic testing. In some cases, a doctor may recommend genetic testing even if there is no family history of cancer.

Benefits of a TP53 Genetic Test

Undergoing a TP53 genetic test can provide individuals with information about their risk of developing cancer. This information can be used to make lifestyle adjustments and to take preventive measures, such as early screening for cancers or undergoing prophylactic surgery. Additionally, the results of the test can provide individuals with more accurate prognoses and can help doctors choose the most appropriate treatment options.