Hereditary Cancer Syndrome

Researchers Discover Hereditary Predisposition to Melanoma of the Eye

Frederick DavidorfMohamed Abdel RahmanOhio State University researchers have discovered a hereditary cancer syndrome that predisposes certain people to a melanoma of the eye, along with lung cancer, brain cancer and possibly other cancers.

An inherited mutation in a gene called BAP1 (BRCA1- associated protein-1) causes the hereditary syndrome, researchers say. The findings suggest that BAP1 mutations cause the disease in a small subset of patients with hereditary uveal melanoma and other cancers.

The uvea involves the iris, ciliary body and choroid layer of the eye. Uveal melanoma is the most common eye tumor in adults. It arises from pigmented cells called melanocytes that reside within the uvea, giving color to the eye.

“We are describing a new cancer genetic syndrome that could affect how patients are treated,” says first author and cancer researcher Mohamed H. Abdel-Rahman, MD, PhD, assistant professor of Ophthalmology and of Medicine in the Division of Human Genetics at Ohio State.

“We are working with researchers at Nationwide Children’s Hospital to develop a clinical test to screen for the BAP1 mutation,” he says.

The research involved 53 unrelated uveal melanoma patients with high risk for hereditary cancer. Of these patients, three had germline variants in BAP1.

Study leader Frederick H. Davidorf, MD, professor emeritus of Ophthalmology at Ohio State, explained that BAP1 seems to play an important role in regulating cell growth and proliferation, and that loss of the gene helps lead to cancer.

“If our results are verified, it would be good to monitor these patients to detect these cancers early when they are most treatable,” says Davidorf, who treats ocular oncology patients at Ohio State along with Colleen Cebulla, MD, PhD.

The findings are reported in the Journal of Medical Genetics.

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