A gene called BAP 1 linked to the spread of eye melanoma has been identified by US researchers.

Researchers at the Washington University School of Medicine in St Louis have discovered the gene that could throw insight on how tumors spread and work on effective treatment to control it.

“Scientists and physicians have been waiting for a rational, therapeutic target that we could use to treat high-risk patients,” said first author and Washington University ophthalmologist J. William Harbour, MD. “We believe this discovery may provide insights needed to hasten the development of therapies for these patients.”

The researchers who reported their study in Science Express, say theBAP1 gene was the cause of nearly 84 percent of the metastatic eye tumors. The eye tumors arise from pigment cells, called melaocytes, which are found below the retina.

More than 2,000 patients register in the US every year with Ocular melanom, which is the most common eye cancer.

“The most common site where the cancer spreads is the liver,” Harbour says. “If it spreads, it goes to the liver about 90 percent of the time, generally leading to death within months.”

"To improve survival, scientists need to understand more about what causes the tumor cells to metastasize, " according to Harbour, the Paul A. Cibis Distinguished Professor of Ophthalmology and Visual Sciences, professor of cell biology and of molecular oncology and director of ocular oncology at the Siteman Cancer Center at Barnes-Jewish Hospital and Washington University School of Medicine.

Metastasis is the most common cause of death in cancer patients, yet little is known about how cancer cells evolve the ability to spread to other parts of the body. There is growing evidence that mutations in so-called metastasis suppressor genes may promote the spread of cancer, while having little to do with earlier stages in the life of a tumor. Very few such genes have been identified, but this finding strongly implicates BAP1 as a new member of that small group.

"We looked for common genetic differences, called polymorphisms, that would unlikely have much of an effect,” said Anne M. Bowcock, PhD, professor of genetics of pediatrics and of medicine and co-investigator of the study. “We eliminated those variations and then went back to look at which gene on chromosome 3 had additional alterations. There was one gene, called BAP1, that had mutations in both of the tumors we analyzed.”