Genetic Mutation and Melanoma
Malignant melanoma is a potentially serious type of skin cancer due to uncontrolled growth of pigment cells, called melanocytes. A number of genes play a role in melanoma, including inherited genes.
Genes produce proteins that perform specific tasks and act as messengers for the cell. It is essential that each gene has the correct instructions or “code” for making its protein so that the protein can perform the proper function for the cell.
Many cancers begin when one or more genes in a cell are mutated, creating an abnormal protein. An increased risk of melanoma occurs when specific gene mutations are passed within a family from generation to ...view middle of the document...
INK44 (inhibitor of cyclin-dependent kinase 4; also known as p16INK4a)
2. ARF (alternate open reading frame; also known as p14ARF in humans).
Mutations in the CDKN2A gene can disrupt the functions of either or both of these proteins.
A differentiation: The skin is a complex organ made up of multiple cell types. Many of these cell types can undergo malignant transformation at various points in their differentiation, leading to tumors with distinct histology and dramatically different biological behaviors, such as squamous cell carcinoma (SCC) and basal cell cancer (BCC). These have been called nonmelanoma skin cancers or keratinocytic cancers.
The MC1R gene provides instructions for making a protein called the melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor). This receptor plays an important role in normal pigmentation. The receptor controls which type of melanin is produced by melanocytes.
When the receptor is activated, it triggers a series of chemical reactions inside melanocytes that stimulate these cells to make eumelanin. If the receptor is not activated or is blocked,...