Genes are found in every cell of your body, controlling how each cell functions. Mutations in genes, either inherited from your mother and father or from damage that occurred during a person’s life, contribute to the growth and development of cancer. Many of the genes that contribute to the development of cancer fall into broad categories, but usually cancer is caused by multiple changes to several different genes.
Tumor suppressor genes are protective genes. Normally, they suppress cell growth by monitoring how quickly cells divide into new cells, repairing mismatched DNA, and controlling when a cell dies. When a tumor suppressor gene is mutated (from heredity or environmental factors), cells grow uncontrollably and may eventually form a mass called a tumor. BRCA1, BRCA2, and p53 are examples of tumor suppressor genes. The most commonly mutated gene in people who have cancer is p53.
In fact, more than 50% of all cancers involve a missing or damaged p53 gene. Most p53 gene Mutations in the following genes are passed down from parent to child and can increase the risk of melanoma. The CDKN2A gene is a regulator of cell division. Mutations in this gene are the most common cause of inherited melanoma.
The risk of melanoma in CDKN2A mutation carriers is approximately 14% by age 50 years, 24% by age 70 years and 28% by age 80 years. Since many people who have mutations in the CDKN2A gene will develop melanoma during their lifetime. Mdm2 is an important negative regulator of the p53 tumor suppressor protein. It is the name of a gene as well as the protein encoded by that gene.
Mutations in the MDm2 gene predispose women, but not men, to develop melanoma at a younger age (less than 50 years old). Having this mutation may be even more potent than other melanoma risk factors such as a history of blistering sunburns, fair skin, and freckling. Other loci (position of a gene on a chromosome) that genetically interact with CDKN2A have also been implicated in melanoma risk. . RB1 gene Germ-line mutations in the retinoblastoma gene (RB1) itself, in the INK4A–CDK4/6–RB pathway, could lead to a 4-fold to 20-fold increased risk of melanoma.
These findings indicate that multiple mechanisms that function to bypass the Rb-dependent G1 cell cycle arrest are involved in the development of malignant melanoma. MC1R gene Increasing evidence has shown that the greater the number of variations in a gene called MC1R (melanocortin-1 receptor), the greater the risk for inherited melanoma. What genes control the color of skin, hair, and eyes? The MC1R gene plays an important role in determining if a person has red hair, fair skin, and sensitivity to UV radiation.
People who have olive and darker skin and who carry one or more variations of this gene have a higher than average risk for melanoma. Having the MC1R mutation carries a more moderate risk than the CDKN2A or CDK4 gene mutations. The MC1R gene provides instructions for making a protein called the melanocortin 1 receptor. This receptor plays an important role in normal pigmentation. The receptor is primarily located on the surface of melanocytes, which are specialized cells that produce a pigment called melanin. Melanin is the substance that gives skin, hair, and eyes their color.