Gene Mutation Increases Cancer Risks

Mesothelioma and other cancer risks increase with BAP1 mutation

/ Author:  / Reviewed by: Joseph V. Madia, MD

(RxWiki News) The battle against the power of cancer is being waged largely on the genetic front these days. Scientists have discovered another gene that could be targeted to treat two forms of the disease.

People who have changes in the gene called BAP1 are at greater risk of developing mesothelioma and melanoma of the eye. Researchers have also discovered that when people with this gene mutation are exposed to asbestos or other fibers, their risks are substantially higher.

"A gene mutation increases risk of mesothelioma."

Mesothelioma is a deadly, fast-spreading cancer of the linings in the chest and abdomen that kills some 3,000 people in the United States every year.  It's usually associated with asbestos or exposure to erionite, a natural mineral fiber found in volcanic ash and rock formations.

Interestingly, though, only a small fraction of people exposed to these fibers go on to develop mesothelioma, a cancer that increasing in Europe and China.

For this study, researchers described two families in the United States who were at high risk for mesothelioma and other cancers. BAP1 mutations were found in every person who provided a sample.

Further study involved gene sequencing of 26 people who had mesothelioma, but had no family history of the disease. Roughly 25 percent of the tumors from this group had mutations in the BAP1.

In two cases, the genes were inherited, and these individuals had developed melanoma of the eye, a rare tumor called uveal melanoma.

This study also found an association between changes in the BAP1 gene and other cancers. The mutation was seen in some people who developed breast, ovarian, pancreatic and kidney cancers.

Researchers say this study illustrates the importance of studying the genetic make-up of tumors to learn more about the underlying biology of cancer.

This study was funded by the National Institutes of Health (NIH) and conducted at the University of Hawaii Cancer Center and the Fox Chase Cancer Center.

The study was published online in Nature Genetics.

Reviewed by: 
Review Date: 
September 1, 2011
Last Updated:
September 2, 2011