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Study Shows Link Between Melanoma and Mesothelioma

Researchers have discovered a genetic link to mesothelioma. In a study funded by the National Cancer Institute (NCI), part of the National Institutes of Health (NIH), scientists found that individuals who carry a mutation in a gene called BAP1 are susceptible to developing two types of cancer—mesothelioma and melanoma of the eye. Scientists also discovered that when these individuals are exposed to asbestos, their risk of developing mesothelioma might be significantly increased.

The study, led by scientists at the University of Hawaii Cancer Center, Honolulu, and Fox Chase Cancer Center, Philadelphia, was published in Nature Genetics. Co-lead and director of the study Michele Carbone, M.D., Ph.D., said the 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. Identifying people at greatest risk for developing mesothelioma,” especially those exposed to dangerous levels of asbestos worldwide “is a task made easier by virtue of this discovery."

Per NIH, researchers first speculated that mutations in the BAP1 gene might encourage mesothelioma in individuals with a strong family history of the disease after observing “genetic changes in or near other stretches of DNA where the BAP1 gene is located.” A closer look at several families with remarkably high rates of mesothelioma showed that “every person who had provided a sample and had developed mesothelioma or melanoma of the eye also carried mutations in the BAP1 gene.”

“Further investigation led to sequencing the gene in several dozen individuals who had developed mesothelioma, but did not have a family history of the disease,” says NIH. “Tumors from about 25 percent of this group carried mutations in the BAP1 gene, and in two cases, the mutations were inherited. Both of the individuals with inherited mutations had previously developed melanoma of the eye.”

Added Joseph R. Testa, Ph.D., study co-leader, and Kenneth E. Weg Chair in Human Genetics at Fox Chase Cancer Center, “this is the first study to demonstrate that individual genetic makeup can greatly influence susceptibility to mesothelioma.” People exposed to dangerous levels of asbestos, “those with a strong family history of mesothelioma, or those who have been previously diagnosed with a rare tumor of the eye known as uveal melanoma, may benefit from this new discovery,” said Testa.

It’s worth noting that the study also revealed that some individuals with BAP1 gene mutations also developed cancers such as ovarian, pancreatic, breast, and renal. Per NIH, “this suggests that the gene mutation may be involved in multiple cancer types.” Further, explains Testa, “it appears likely that other genes, in addition to BAP1, will be found to be associated with elevated risk of mesothelioma.”

Studies such as these are an important advance in improving researchers understanding of the different biological mechanisms that play a role in the development of mesothelioma. Research is ongoing, with organizations such as NCI and NIH helping lead the way.



Carbone, Michele, and Joseph R. Testa. "Germline BAP1 Mutations Predispose to Malignant Mesothelioma." ResearchGate, 08 Mar. 2017. Web. 10 Apr. 2017.

"Comprehensive Cancer Information." National Cancer Institute (NCI). National Institutes of Health (NIH), U.S. Department of Health and Human Services (HHS), n.d. Web. 10 Apr. 2017.

"NIH-funded Researchers Discover Genetic Link to Mesothelioma." National Institutes of Health (NIH). U.S. Department of Health and Human Services, 24 Sept. 2015. Web. 10 Apr. 2017.