Genetic Counseling and Testing for People at High Risk of Melanoma

Gene mutations (changes) that increase melanoma risk can be passed down through families (inherited), but these account for only a small portion of melanomas.

You might have inherited a gene mutation that increases your risk of melanoma if:

• Several (typically at least 3) members on one side of your family have had melanoma
• You have had 3 or more melanomas
• You have had melanoma at an early age (typically before age 45)
• You or other family members have also had other cancers that might be from an inherited genetic syndrome (such as pancreatic cancer, breast cancer, or brain tumors)

The most common gene changes in families with high rates of melanoma are mutations in the CDKN2A gene (also known as p16). Genetic tests for changes in this gene have been available for several years, although it hasn’t always been clear how useful they are. In part, this is because people with any of the factors above are already known to have a higher risk of melanoma whether they carry a mutated CDKN2A gene or not, so it’s not always clear how genetic testing results would change what a person does (or what a doctor would recommend).

In recent years, researchers have found inherited changes in other genes that are linked with an increased risk of melanoma. While changes in some of these genes seem to be linked mainly with melanoma, changes in other genes result in inherited syndromes that increase the risk of other cancers, as well as melanoma. For example:

• Changes in the BRCA2 gene are most often linked with increased risks of breast and ovarian cancers, but they’re also linked with some other cancers, including melanoma.
• Changes in the PTEN gene are linked with breast, uterine, and thyroid cancer, as well as melanoma.
• Changes in the TP53 gene can result in Li-Fraumeni syndrome, which is linked with increased risks of breast cancer, sarcoma, and brain tumors, as well as melanoma.
• Changes in the BAP1 and MITF genes have also been linked with other cancers in addition to melanoma.

With advances in technology in recent years, the costs of genetic testing have come down, and testing can now be done to look for changes in several different genes at the same time. Still, most melanoma experts don’t recommend genetic testing for all people with a personal or family history of melanoma. Testing is more likely to be helpful if you have any of the factors in the list above, or if your family history includes some of the cancer types listed above.

Whether or not your doctor recommends genetic testing – and which gene changes would be tested for – will depend on how likely it is that you might have an inherited gene change.

If you’re considering genetic testing, it’s very important to meet first with a genetic counselor or other health professional with knowledge of genetic testing. They can describe the tests to you and explain what the results may or may not tell you about your risk. Genetic testing is not perfect, and sometimes the tests might not provide clear answers. To learn more about genetic testing, see Genetic Testing for Cancer Risk.

Regardless of whether genetic testing is done, people with a strong personal or family history of melanoma should talk to their doctor about getting regular skin exams, learning to do skin self-exams, and being particularly careful about sun safety.