What kind of cancer gene is TP53?

An inherited TP53 mutation is known as Li-Fraumeni syndrome. Li-Fraumeni syndrome is a rare genetic condition that can increase your risk of certain types of cancers. These cancers include breast cancer, bone cancer, leukemia, and soft tissue cancers, also called sarcomas.

What is the ATM gene responsible for?

The ATM gene provides instructions for making a protein that is located primarily in the nucleus of cells, where it helps control the rate at which cells grow and divide.

Where is the TP53 gene located?

The TP53 gene is located on chromosome 17. The Tp53 protein is a negative regulator of cell proliferation and a positive regulator of apoptosis in response to DNA damaging agents. TP53 is the most common mutated gene associated with human cancer.

What is the gene code for p53?


Aliases TP53, BCC7, LFS1, P53, TRP53, tumor protein p53, BMFS5, Genes, p53
External IDs OMIM: 191170 MGI: 98834 HomoloGene: 460 GeneCards: TP53
showGene location (Human)
showGene location (Mouse)

Is TP53 mutation good or bad?

p53 Germline Mutations and Li–Fraumeni Disease. p53, famously dubbed ‘The Guardian of the Genome’, is arguably the most significant gene for cancer suppression. Somatic loss of function of p53 underpins tumor progression in most epithelial cancers and many others besides.

Does everyone have the TP53 gene?

Everyone has two copies of the TP53 gene, which we randomly inherit from each of our parents. Mutations in one copy of the TP53 gene can increase the chance for you to develop certain types of cancer in your lifetime.

What cancers are associated with ATM mutation?

An ATM mutation increases your risk for breast cancer. It can also increase your risk for pancreatic cancer, but this is less common. An ATM mutation may also increase your risk for ovarian and prostate cancer, but more research is needed for us to better understand these risks.

Why is p53 called p53?

The name is due to its molecular mass: it is in the 53 kilodalton fraction of cell proteins. The human p53 gene is located on the seventeenth chromosome (17p13. 1). The p53 protein is a phosphoprotein made of 393 amino acids.

When is p53 activated?

p53 is activated by a variety of cellular stresses, including DNA damage, hypoxia, and mitogenic oncogenes, but the extent to which each signal engages p53 as a tumour suppressor remains unknown.

How many people have TP53?

Thus, TP53 germline mutations may be more common than previously recognized, occurring in about 1 in 5,000 to 1 in 20,000 births (Lalloo et al.