VHL Tumor Suppressor Gene and Their Protein Products

Another important step in the initiation and progression of tumor suppressor genes and their protein product tumors is inactivation of tumor suppressor genes in addition to oncogene activation. Under normal function, the tumor suppressor gene (TSG) acts as a negative regulator of cell proliferation regulation by limiting cell proliferation and tumorigenesis. For tumor development it was found that two copies of TSG had to be lost by gene mutation or deletion (1).

VHL is an autosomal dominant genetic disease, and parents with the VHL gene may be inherited by offspring with a 50% chance. (See Figure 2) The VHL gene is on chromosome 3 (see Figure 3) and is a tumor suppressor gene. Even if two copies of the gene are released due to mutation or loss, cell proliferation is not inhibited. A mutation may mean a nucleotide substitution or a nucleotide insertion 3. (See Figure 4)

Von Hippel Lindau (VHL) Disease - This is a hereditary cancer syndrome caused by a germline mutation in the VHL tumor suppressor gene. The VHL gene contains 3 exons and encodes 5 kb mRNA. In the second half of exon 1 germline mutations are identified in the first half of exon 3 and in some parts of exon missense enzymes known frame shift and nonsense mutation occurs with deletion. Given the wide range of mutations, the only standardized method for screening for mutations is by sequencing.

P 53, also known as protein 53 or tumor protein 53, is a tumor suppressor protein encoded by the TP 53 gene. P53 is essential in multicellular organisms that regulate the cell cycle and act as tumor suppressors against cancer. Therefore, p53 plays a role in maintaining stability by preventing genomic mutations, so it is described as "a genomic guardian." It is named p53 based on the apparent molecular weight: it acts as a protein of 53 kilodaltons (kDa) on SDS-PAGE.

BRCA1 and BRCA2 are two human genes responsible for the production of tumor suppressor proteins. Tumor suppressor protein, as its name, serves to repress tumor-producing cells by repairing damaged DNA. Certain mutations in these genes may lead to breast cancer or ovarian cancer. In fact, the BRCA1 / BRCA2 mutation accounts for 25% of cases of hereditary breast cancer in the world and 5 to 10% of all breast cancer cases. These mutations are hereditary, and if their parents are carriers of either of these mutations, then their offspring will also have a 50% change.