Disease characteristics
Tumor Protein 53 (TP53) is a tumor suppressor gene, which can directly bind to the cell’s DNA and initiate repair or the death of the damaged DNA so it prevents the cell from becoming cancerous and developing tumors. Mutations in this gene have been found in 60% of virtually all forms of cancer. The most common types of tumors are soft tissue sarcomas and osteosarcomas, breast cancer, brain tumors, leukemia, and adrenocortical carcinoma. A comprehensive database on TP53 mutations could be found at: http://www-p53.iarc.fr/p53resources.html
Mutation
There are tens of mutations throughout the TP53 gene exons and introns starting at exon 2. If these mutations are inherited then they could be detected using molecular techniques such as gene sequencing.
Testing criteria
Proband with any form of cancer before the age of 55 years
A first-degree relative of a person with any cancer before the age of 55 years
Early cancer detection in families with history
Methodology and Sample Requirements
Testing methods for these genes includes PCR amplification and DNA dideoxy-termination sequencing.
Sample requirement is 3-5ml of whole blood in a Lavender Top Tube with EDTA.