A Rare Breed: Inherited Melanoma

A tiny fraction of melanoma is inherited.
ERICA BRITTON has a genetic
mutation associated with risk
for both breast cancer and
ERICA BRITTON has a genetic mutation associated with risk for both breast cancer and melanoma. - PHOTO BY RACHEL FESKO
WHEN ERICA BRITTON, 31, was diagnosed with melanoma at the age of 23, her family history of ovarian cancer prompted her physicians to test her for inherited mutations in the BRCA1 and BRCA2 genes. Inherited mutations in these genes, or germline mutations, are most commonly associated with increased risk for breast cancer and ovarian cancer; however, some research has also linked the mutations to an increased risk for certain skin cancers, including melanoma.

Melanoma is a form of skin cancer in which cancer cells form in melanocytes, or the cells that color the skin, such as moles. In 2016, it is estimated that more than 76,000 new cases of melanoma were diagnosed. The majority of cases are diagnosed at an early stage, and these patients have a five-year survival rate of greater than 90 percent. Although melanoma starts in the skin, it can spread, or metastasize, to other parts of the body. Patients diagnosed with metastatic melanoma have a five-year survival rate of about 18 percent.

About 8 percent of people diagnosed with melanoma have a first-degree relative who has also been diagnosed. Even fewer — about 1 to 2 percent — have two or more relatives with melanoma. These patients may have familial melanoma.


“Cases of inherited melanoma are extremely rare,” says Lynn M. Schuchter, M.D., chief of the division of hematology/ oncology and C. Willard Robinson Professor of Hematology-Oncology at Penn Medicine. “The vast majority of melanoma is sporadic.”

Everyone is at some risk for sporadic (non-inherited, or random) melanoma, but there are certain factors that increase the likelihood of getting the disease. People with fair skin that freckles or burns easily, people with blue, green or light-colored eyes, and those with red or blond hair are all at increased risk. In addition, long periods of exposure to natural sunlight or artificial ultraviolet (UV) radiation, like from a tanning bed, can increase risk. Finally, having several large or many small moles, or having a family history of unusual moles, can increase the risk for melanoma.

All of these risk factors are relevant in familial melanoma, but most familial or hereditary cancers are caused by certain germline (inherited) mutations.

“There is an increased risk for developing melanoma associated with gene mutations passed from generation to generation, but there is also risk associated with other things shared by families,” explains Pauline Funchain, M.D., a medical oncologist at Cleveland Clinic, in Ohio. “These shared things include other predisposing factors for melanoma like blond or red hair, fair skin, blue or green eyes, or shared activities like boating or other outdoor activities.”

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