According to a new report, Dr. Michele Carbone – an authority on the BAP1 genetic mutation that plays a role in the development of mesothelioma – has found that some carriers of the BAP1 mutation have a much better prognosis. Some are even cured, according to his research.
This breakthrough provides new hope for mesothelioma patients and their families. It also underscores the importance of continued research into this disease.
Dr. Carbone, His Work on the BAP1 Mutation and Mesothelioma
For 25 years, Dr. Carbone has been studying how mesothelioma can be transmitted, starting with analyzing genes from people in three villages in Turkey. His research soon expanded to include the BAP1 cancer syndrome, particularly for cases in the United States. When mutated, the BAP1 gene was responsible for most familiar mesotheliomas in the U.S.
Why the BAP1 Mutation is Significant
The BAP1 gene is a tumor suppressor, protecting the cell from replicating at an increased rate. Every person has two copies of the BAP1 gene – one coming from each parent.
For the BAP1 gene to lose its ability to regulate cell growth, it must lose both working copies, which can happen if:
- Both copies of the BAP1 gene obtain a mutation,
- Or, if the person is born with a mutation in ONE copy of the gene, then it mutates the second copy, causing the entire gene to lose its function.
Overall, mutations in the BAP1 gene cause a novel cancer syndrome characterized by early onset of benign skin tumors and, later in life, by a high incidence of mesothelioma and additional cancers.
Why Family Involvement is Pivotal for Mesothelioma Research
In Carbone’s research, one of the families he studied was from Louisiana, a state with one of the highest rates of asbestos-related diseases in the U.S. The problem is due to the state’s history of asbestos exposure through working in industries such as shipyards, factories, oil refineries, auto repair, and construction sites.
Another form of exposure is through secondary exposure, when the workers from the above industries bring asbestos home through tiny fibers attached to their bodies. Louisiana workers and their families were exposed to asbestos for decades without knowing the dangers. Now, many of them are facing severe health problems as a result.
Thanks to the families allowing Dr. Carbone to study their genes, this new research poses questions about the BAP1 mutation and how some carriers can fight mesotheliomas and other asbestos-related diseases while others cannot. With further study, scientists may be able to develop more effective treatments for mesothelioma and improve the prognosis for all patients.
Overall, Dr. Carbone’s research provides more understanding of the disease, especially for Louisianans with mesothelioma.
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