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Genetic Link to Mesothelioma Discovered

Posted on | September 2, 2011 | Comments Off

University of Hawaiʻi Cancer Center and Fox Chase Cancer Center scientists found that individuals who carry a mutation in a gene called BAP1 are susceptible to developing two forms of cancer—mesothelioma and melanoma of the eye. Additionally, when these individuals are exposed to asbestos or similar mineral fibers, their risk of developing mesothelioma, an aggressive cancer of the lining of the chest and abdomen, may be markedly increased.

The study, published online Aug. 28 in Nature Genetics, describes two U.S. families with a high incidence of mesothelioma, as well as other cancers, associated with mutations of the BAP1 gene.

Mesothelioma tumors are typically associated with asbestos and erionite exposure. Erionite, a naturally occurring mineral fiber similar to asbestos, is found in rock formations and volcanic ash. Deposits have been located in at least 12 states.

The researchers first suspected that mutations in the BAP1 gene might underlie mesothelioma in people with a strong family history of the disease after noticing genetic changes in or near other stretches of DNA where the BAP1 gene is located. Looking more closely at two families with unusually high rates of mesothelioma, they saw that every person who had provided a sample and had developed mesothelioma or melanoma of the eye also carried mutations in the BAP1 gene.

“This discovery is a first step in understanding the role of the BAP1 gene and its potential utility when screening for mutations in those at high risk,” says Michele Carbone, study leader and director of the University of Hawaiʻi Cancer Center. “Identifying people at greatest risk for developing mesothelioma, especially those exposed to dangerous levels of asbestos and erionite worldwide, is a task made easier by virtue of this discovery.”

Read the news release.

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