Clapper, Patti, Schweizer and Mason

The results of a recent study, published in the online version of Nature Genetics, point to a previously unnoticed genetic risk factor for mesothelioma.  The disease is a deadly form of cancer caused by exposure to asbestos.  It strikes nearly 3,000 new patients per year in the United States.  While no asbestos exposure should ever be considered safe, this new research points out that some exposed to the carcinogen may be at much greater risk than others. 

Funding from the National Cancer Institute allowed researchers from the University of Hawaii Cancer Center and Fox Chase Center in Philadelphia to discover this new link.  Scientists observed several groups of participants and directly correlated mutations of the BAP1 gene with increased risk of mesothelioma diagnosis. 

The Philadelphia team was guided by Doctor Joseph Testa who led researchers in identifying the gene.  The bulk of the data was collected from studying two families suffering from abnormally high mesothelioma rates.  After examining genetic makeup – comparing their genes to “normal” genes – scientists discovered that each and every family member diagnosed with mesothelioma was also a carrier of this mutated BAP1 gene.

To verify these results, scientist surveyed a small group of respondents (26 people) who had already been diagnosed with mesothelioma.  Roughly 25 percent of those in the sample group were found to have this specific mutation of the BAP1 gene.

This discovery could allow doctors to detect mesothelioma earlier – which is fundamental in prolonging the patient’s life and increasing the quality of life they will enjoy.  Not only would knowing that a patient was a carrier of this mutated gene make doctors more prone to testing patients for mesothelioma and decrease the number of misdiagnoses which occur, but it may make patients more wary as well.

This is crucial because mesothelioma is a very aggressive form of cancer.  It is most often diagnosed only after patients pass into Stage 3 or Stage 4 and by then it’s almost too late to do anything for them.  Most die within months.

This BAP1 gene mutation may also be linked to other forms of cancer as well including:

• Breast
• Ovarian
• Pancreatic
•  Renal
• And even a very rare form of melanoma of the eye

Testa was excited by the study results and quoted as saying he was “hopeful that this research will open doors for more research and better treatments.”

Testa’s counterpart on the other side of the world, Michele Carbone, M.D., Ph.D., director of the University of Hawaii Cancer Center, was also taken aback by this clear-cut genetic link.  For years scientists have been trying to figure out the exact cause of mesothelioma.  Asbestos has been the number one suspect but until now nobody could answer why some people exposed to asbestos remained healthy while others were diagnosed and died. 

Carbone said that "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.”

The study will undoubtedly affect the future of mesothelioma studies and could have wide reaching implications for the more than 200,000 people who succumb to the disease worldwide.

Chair in Human Genetics at Fox Chase Cancer Center, Kenneth E. Weg, added that "this is the first study to demonstrate that individual genetic makeup can greatly influence susceptibility to mesothelioma.”