There have been several areas of study in regards to mesothelioma. While there is not a cure at this time, an area that may provide key answers that will lead to one are genetic cues. Much like genetic mutations, these cues can allow doctors to gain a better understanding of how mesothelioma begins developing in the body. When the developmental process is better understood, it will not only lead to earlier diagnosis, it will also allow for the development of treatments that are based on the individual patient. This is significant information, especially considering that current diagnosis typically does not occur until the disease is in its later stages.

BAP1 Mutation

One mutation that has undergone intense study is the BAP1. This mutation has been identified as a marker that indicates an increased likelihood of developing mesothelioma. Additionally, it also indicates increased survival after diagnosis. These seemingly opposite effects are due to this mutation working within the body to help cancer cells grow, while also helping to suppress them.

BAP1 and DNA

BAP1 is responsible for the production of deubiquinylase, which is an enzyme that is beneficial to cell repair. This enzyme helps with controlling the location of proteins within the cells, as well as their activity and breakdown. This is an important consideration when it comes to breaks in DNA, as BAP1, along with RNA and repair proteins, work together to fix the damage caused by asbestos exposure.

BAP1 in Families

The BAP1 mutation occurs in one of two ways. When the mutation is found in the genome, it means that every cell within the body has it. However, there are others situations wherein the mutation is confined specifically to the cancer cells, while the rest of the cells in the body have BAP1 proteins that are healthy and active. This is significant, because those who have the mutation in the genome are not only more likely to develop mesothelioma after asbestos exposure; they are also at an increased risk of basal cell carcinoma and melanomas. Dr. Testa, a Fox Chase Cancer Center doctor believes that this information can be used to determine which patients may be at a higher risk for developing mesothelioma, which will allow for earlier diagnosis and intervention.

BAP1 and Survival

There have been a total of 23 patients that have been discovered to have the BAP1 genome mutation, and the findings in these patients have been promising. 12 of these patients lived for 10 years after their mesothelioma diagnosis, and the remaining 11 are still alive. This is especially intriguing when considering the fact that most people who are diagnosed with this disease do not live beyond five years. The scientists who followed these patients also took the time to compare their survival rates to more than 10,550 patients logged in the US database. After doing this, they discovered that those with the BAP1 genomic mutation survived seven times longer than those that did not have it.

What This Means

The discovery of the effects of the BAP1 mutation on both diagnosis and survival after diagnosis is an important one.  Knowing whether this mutation is present will allow doctors to pay closer attention to those with it that have been exposed to asbestos, assisting with earlier diagnoses. Further, given the increased survival time, further study may result in better, more effective treatments in the future.

All of this information is quite promising given the poor prognosis for patients who are diagnosed with mesothelioma. Even though there is currently no cure, understanding these genetic cues is the first step in fighting this horrible disease.

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