What Causes Eye Cancer?

While we know about some of the risk factors for eye cancer (especially melanoma of the eye, or intraocular melanoma), the exact cause of most eye cancers is not known.

A great deal of research is being done to learn more about genes inside cells and how changes in them can cause the cells to become eye cancer cells.

How gene changes can lead to cancer

Genes are the instructions that control how cells function. They are made up of DNA and are inherited from both of your parents.

Different genes have different functions in our bodies. When they are working properly, certain genes:

• Help control when our cells grow and divide to make new cells
• Repair mistakes in DNA
• Cause cells to die when they’re damaged or no longer needed

But if certain genes aren’t working the way they should, cells can grow out of control, which can lead to cancer. To learn more, see Oncogenes, Tumor Suppressor Genes, and DNA Repair Genes.

Inherited gene mutations related to eye cancer

Each person has 2 copies of every gene in their cells, one from each parent. Some people inherit gene changes (mutations) that increase their risk for eye cancer.

One example is a mutation in the BAP1 tumor suppressor gene. Someone who has inherited this gene change will have it in all of their cells, and it raises their risk of eye melanoma and some other cancers. A mutated BAP1 gene doesn’t work normally, which can allow cells to grow out of control.

Acquired gene mutations related to eye cancer

Most gene changes linked to eye cancer are acquired during a person's life. They happen later in life, in just one group of cells. For example:

• Most people with eye melanomas have acquired mutations in 1 of 2 related oncogenes: GNA11 or GNAQ.
• About half of people also have a mutated BAP1 gene, but the change is acquired rather than inherited, so it is only in the cancer cells.
• Other genes that can sometimes be affected include PLCB4, CYSLTR2, SF3B1, and EIF1AX.

Scientists are studying these and other DNA changes to learn more about them and how they might lead to eye cancer.

What causes the gene changes that lead to cancer?

Scientists don’t yet know why some people develop gene changes and others don’t. Some changes might be caused by something in a person’s environment, like intense ultraviolet (UV) radiation. But sometimes they may just be random events that happen inside a cell, without having an outside cause.