Eye Cancer Abdel Rahman

The Ohio State University Wexner Medical Center is at the forefront of research that ties ocular melanoma and other cancers to a hereditary tumor predisposition syndrome.

“We discovered that 10 to 20 percent of patients with eye melanoma have a high risk for developing another type of cancer based on genetic predisposition. And family members are at risk, too,” explains Mohamed Abdel-Rahman, MD, PhD. “With this knowledge, we can be proactive.”

Dr. Abdel-Rahman and colleagues at the Ohio State Wexner Medical Center are among the first researchers in the world to identify this hereditary cancer syndrome – called BAP1, the BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS).

Working with an international consortium, they examined data involving patients with a strong family history of cancer. They also studied the BAP1 gene, which normally suppresses tumor formation. The researchers found compelling evidence that people with BAP1 mutations have a high risk for:

  • Eye melanoma
  • Skin melanoma
  • Mesothelioma
  • Renal cell cancer

“Identifying patients with BAP1 tumor predisposition syndrome is extremely important,” Dr. Abdel-Rahman says. “If we see patients with eye melanoma at a young age or with a family history of these other cancers, that’s a red flag and reason to test them for BAP1 gene mutation.”

Because patients and family with BAP1 syndrome are at high risk for developing other cancers, they should be monitored with regular exams and ultrasounds. They should also avoid smoking and asbestos exposure, known cancer contributors.

“If ophthalmologists know that BAP1 mutations run in the patient’s family, they can check for suspicious lesions sooner – even in childhood,” Dr. Abdel-Rahman says. “We increase the chances of preserving the patient’s vision.”

The National Cancer Institute recently published “Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide,” a seminal paper written by the BAP1 Consortium. Dr. Abdel-Rahman is co-leader of the consortium.

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