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Genetics of Melanoma

written by: R. Elizabeth C. Kitchen•edited by: DaniellaNicole•updated: 6/27/2011

Have you or a loved one been affected by melanoma? If so, read on to learn more about the genetics of melanoma to determine if it could have played a role.

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    Knowing how genetics can lead to developing melanoma may seem difficult and complex. However, taking the time to learn more about it will help patients gain a better understanding of their risk and how they can try and prevent melanoma.

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    What is Melanoma?

    genetics of melanoma Melanoma is a type of skin cancer that originates in the melanin-producing cells. This type of cancer can also develop in the eyes, and in rare cases, the internal organs. This type of skin cancer is considered the most serious kind.

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    Genetics of Melanoma

    When one or more of a cell's genes mutate cancer begins. This will either result in the creation of no protein or an abnormal protein and in both cases the cells that are mutated will multiply uncontrollably. Several genes are being investigated to determine whether they are linked to melanoma. As of now, only one percent of all melanoma diagnoses are connected to specific genetic variations. However, a study conducted in 2009 concerning twins with melanoma determined that 55 percent of a patients risk of melanoma could be due to genetic factors.

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    Inherited Gene Mutations in Melanoma

    Certain genes that can result in the development of melanoma are passed down from a parent to their child. Some of these include:

    CDKN2A: Approximately 70 percent of all people who have a CDKN2A gene mutation will develop melanoma at some point during their lifetime. Mutations in this gene are the most common reason for a person developing inherited melanoma.

    MC1R: There is increasing evidence suggesting that the more MC1R gene variations there are, the higher the risk a person has of developing melanoma. This gene is partly responsible for determining whether or not a person has fair skin, red hair, or a a UV radiation sensitivity. People who have these traits tend to have a higher risk of developing skin cancer, even when a genetic mutation is not present.

    MDM2: In 2009, a study was published that determined that a mutation in this gene predisposes women to developing this cancer at a younger age (younger than 50 years of age). However, a mutation in this gene does not predispose men the developing this type of cancer. Those who have this genetic mutation along with fair skin, a history of blistering sunburns, and freckling are at an even higher risk of developing skin cancer.

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    Genetic Causes by Non-Inherited Genes

    Certain gene mutations that are not inherited may also increase a person's chance of developing melanoma. These mutations are acquired due to the sun and other environmental factors. These genes include BRAF, EGF, P16, and Fas.

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    Resources

    American Society of Clinical Oncology. (2010). The Genetics of Melanoma. Retrieved on April 17, 2010 from the American Society of Clinical Oncology: http://www.cancer.net/patient/All+About+Cancer/Genetics/The+Genetics+of+Melanoma

    Mayo Clinic. (2008). Melanoma. Retrieved on April 17, 2010 from the Mayo Clinic: http://www.mayoclinic.com/health/melanoma/DS00439

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    Image Credits

    Melanoma: Unknown Author – Wikimedia Commons






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