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.
How common is TP53 mutation in cancer?
Somatic Mutations. Somatic TP53 mutations occur in almost every type of cancer at rates from 38%–50% in ovarian, esophageal, colorectal, head and neck, larynx, and lung cancers to about 5% in primary leukemia, sarcoma, testicular cancer, malignant melanoma, and cervical cancer (Fig. 1).
What is a TP53 mutation?
Somatic TP53 gene mutations are common in ovarian cancer, occurring in almost half of ovarian tumors. These mutations result in a p53 protein that is less able to control cell proliferation. Specifically, it is unable to trigger apoptosis in cells with mutated or damaged DNA.
Is TP53 good or bad?
TP53 is well known for its role as a tumor suppressor. It senses cellular stress or damage and in response stops cell division or initiates cell death, thereby preventing a damaged cell from reproducing. Mutation of this gene eliminates a key cellular fail-safe mechanism and is a step leading to cancer.
How often is p53 mutated in cancer?
The p53 gene contains homozygous mutations in ~50–60% of human cancers. About 90% of these mutations encode missense mutant proteins that span ~190 different codons localized in the DNA-binding domain of the gene and protein.
Is p53 associated with hereditary cancers?
The majority of sporadic cancers exhibit loss of p53 activity due to mutations or deletions of TP53, and alterations in its signaling pathway. Germline TP53 mutations have been identified in a group of families exhibiting a rare but highly penetrant familial cancer syndrome, called the Li-Fraumeni syndrome (LFS).
Is p53 mutation inherited?
LFS is a hereditary genetic condition. This means that the cancer risk can be passed from generation to generation in a family. This condition is most commonly caused by a mutation (alteration) in a gene called TP53, which is the genetic blueprint for a protein called p53.
What cancers is p53 associated with?
P53 mutations associated with breast, colorectal, liver, lung, and ovarian cancers. Environ Health Perspect.
How is TP53 treated?
Many researchers believe the emerging science of gene therapy holds the key. A gene therapy treatment based on restoring p53 could be safely combined with traditional cancer treatments such as surgery, chemotherapy or radiation therapy to increase the overall effectiveness of the treatment plan.
How is p53 mutation detected?
Methods used for the detection of P53 mutations are based either on genomic DNA or mRNA as a template (11,12,15). The most widely used methods are based on DNA sequencing. However, few studies exist that compare sequencing assays by using both RNA and DNA targets (18–22).