A key discovery in the fight against eye cancer

A key discovery in the fight against eye cancer

Cancer is a disease that has ripped apart lives and families for centuries and is still as mysterious today as ever, with experts constantly striving to find new ways of diagnosing and curing the condition.

One of the deadliest forms of the disease is eye cancer, with American Cancer Society"s most recent estimates for the US alone showing that there were 2,570 new cases of cancers (primarily melanoma) of the eye in 2011, with 1,270 in men and 1,300 in women.

Overall, there were 240 deaths from cancer of the eye - 130 in men and 110 in women - which is why experts are constantly searching for ways to improve diagnosis and help catch the condition early.

Primary eye cancers can occur at any age, but most occur in people over age 50, with cancer that spreads to the eye from another part of the body actually more common than primary eye cancers.

The most cancers of the eye and orbit in adults are melanomas, lymphomas being the next most common, with nine out of ten melanomas starting in the skin and most lymphomas beginning in the lymph nodes - something recently explored by scientists at Ohio State University in a breakthrough study.

They 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 types of cancer, and could lead to new ways of diagnosing and treating the condition and reducing mortality statistics.

Researchers claim the hereditary cancer syndrome is caused by an inherited mutation in a gene called BAP1, with the study indicating that these mutations lead to the disease in a small subset of patients with hereditary uveal melanoma and other cancers.

The findings, reported in the Journal of Medical Genetics, were detailed by Dr Mohamed Abdel-Rahman, a researcher at the Ohio State University Comprehensive Cancer Center, Arthur G James Cancer Hospital and Richard J Solove Research Institute.

"We are describing a new cancer genetic syndrome that could affect how patients are treated. If we know that a patient has this particular gene mutation, we can be more proactive with increased cancer screenings to try to detect these other potential cancers when they are beginning to grow," he explained.

Study leader Dr Frederick H Davidorf, professor emeritus of ophthalmology at Ohio State University, explained that BAP1 appears to play a vital role in regulating cell growth and proliferation, while the loss of the gene leads to cancer.

If the results are verified, it would be helpful to monitor patients to detect these cancers early when they are most treatable, he explained.

The study involved 53 unrelated uveal melanoma patients with high risk for hereditary cancer, along with additional family members of one of the study participants; of the patients involved the study, researchers identified germline variants in BAP1 in three of them.

Dr Abdel-Rahman explained that so far the experts identified six families with this particular hereditary cancer syndrome, and are working to develop a clinical test to screen for the BAP1 gene mutation.

Although the full pattern of cancers these patients are predisposed to are not yet known, and more studies are needed, the research has important implications in the fight against eye cancer, he explained.

"Families with this cancer syndrome should be screened for inherited mutations that increase their risk for developing several other cancers," the expert recommended.

by Alexa Kaczka

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