Study develops melanoma testing guidelines

By By Deborah Rafferty

By Deborah Rafferty

Researchers at the Huntsman Cancer Institute led a three-year international study to develop guidelines for patients who would qualify for melanoma genetic testing.

The guidelines come after the HCI discovered a gene mutation in the early 1990s that increases risk for developing melanoma. This gene mutation increases the chance someone will develop melanoma by 76 percent, said Sancy Leachman, director of the Melanoma and Cutaneous Oncology Program at HCI and associate dermatology professor. Since the discovery of the gene, nothing has been done to help those that have it, and these guidelines could help physicians decide whether a patient needs to receive this test.

Physicians could use the guidelines with a patient, then decide if the patient needs to be sent to a genetic counselor to discuss getting tested.

“If you find out early, you can do things to live life differently,” Leachman said. “We can reduce the chances, but we can’t stop them.”

Not everyone needs to be tested for the gene, Leachman said. The guidelines help determine who has the greatest need for testing. Top-priority patients to receive this test have three or more melanomas, family members from the same bloodline that had three or more melanomas or a family history of pancreatic cancer, Leachman said.

Pancreatic cancer is very difficult to detect and does not manifest until far along in the process. The gene mutation also increases the chance a patient could develop pancreatic cancer by 17 percent, Leachman said. The genetic test could be used to help physicians screen patients for pancreatic cancer early.

“We came up with guidelines, not rules,” Leachman said. “A major conclusion is there is not a single guideline. These are not applicable worldwide.”

These guidelines change depending on the environmental risks, such as the amount of sun an area receives. Although genetics accounts for a little more than half of the risk involved in developing melanoma, the other factors come from the environment, Leachman said. High-risk areas such as Australia, which receives a lot of sun, would have different guidelines from those in a low risk area, such as the United Kingdom, where natives soak up a lot less vitamin D. The United States and Utah are medium- to high-risk areas.

Genetic features such as hair, eye and skin color also play a part. People with fair skin and freckles tend to get melanomas more often, Leachman said. However, those with darker skin, if they have the gene mutation, can still develop melanoma.

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