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Genetic Mutation

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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 generation. Inherited melanoma is sometimes called familial melanoma. A person may be born with a genetic mutation in all their cells (germline mutation). Every cell usually has two copies of each gene: one inherited from the mother, and one inherited from the father. Hereditary melanoma follows an autosomal dominant inheritance pattern, in which a mutation needs to happen in only one copy of the gene. This means that a parent with a gene mutation may pass on a copy of the normal gene or a copy of the gene with a mutation. Therefore, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. If a person has a first-degree relative with melanoma, his or her risk of developing melanoma is two to three times greater than the average risk.

Mutations in the following genes are passed down from parent to child and can increase the risk of melanoma: CDKN2A 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. CDKN2A encodes two distinct proteins:

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