Mesothelioma Genetics

Like all cancers, mesothelioma is literally a genetic disease. Mesothelioma occurs when the genes of normal, healthy cells mutate and transform into mesothelioma cells. Cancer researchers are identifying the specific genes that cause or result from mesothelioma to use this information to diagnose patients.

Written and Fact-Checked by: Mesothelioma Hope Team

How Do Genes Help Diagnose Mesothelioma?

There are two ways that genetics may be used to diagnose mesothelioma:

  1. Genetic testing of tumors, to confirm a mesothelioma diagnosis and stage the disease
  2. Genetic testing for genes that may lead to cancer passed through families

Cancer researchers have made significant progress in genetically diagnosing mesothelioma, but there is still a lot to learn. Most of the genetic variations associated with mesothelioma are still being explored and need a better understanding before patients can be diagnosed solely with their genetics.

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Genetic Tumor Tests

Cancer researchers can biopsy and test tumors for specific genetic patterns, using these patterns to diagnose and stage mesothelioma. This information is stored in genomic libraries and, as more patients contribute their DNA samples to the databases, their accuracy in diagnosing mesothelioma improves.

In addition, genetic testing can be used to distinguish mesothelioma from other diseases that have similar symptoms and appearance. For example, one test allows scientists to differentiate between mesothelioma and lung adenocarcinoma from pleural effusion cells. The ability to properly identify mesothelioma is critical to developing appropriate and effective treatment plans.

Genes That May Cause Mesothelioma

Mesothelioma Update

One of the biggest mysteries with mesothelioma is why some people get the disease, while others don’t. For example, asbestos exposure is considered the single biggest cause of mesothelioma, with approximately 80% of mesothelioma patients exposed to asbestos or asbestos-like fibers. Yet, the vast majority of people exposed to asbestos never develop mesothelioma. Why? This is the question that cancer researchers continue to investigate and many believe the answer is genetics.

Once cancer researchers understand which genes lead to mesothelioma and other forms of cancer, they can test for these genes to help diagnose mesothelioma patients.

BAP1 Gene Mutation

Dr. Michele Carbone was funded by the National Cancer Institute to identify a “mesothelioma gene,” after mesothelioma epidemics occurred within several isolated family groups. Dr. Carbone and his team successfully discovered a gene called BAP1 that led to mesothelioma when mutated. The study further concluded that every individual who had the mutated form of BAP1 within the study group developed at least one cancer tumor in their lifetime, with mesothelioma occurring after asbestos or zeolite exposure.

The specific BAP1 mutation that leads to mesothelioma, melanoma, and other forms of cancer, was later traced back to numerous American families with ancestors in Switzerland. It’s believed these families first came to the United States in the early 1700s and held the mutated gene in their DNA for the entirety of their family history.

While the BAP1 mutation almost certainly guarantees a person will get mesothelioma if exposed to asbestos, there is one distinct benefit: these patients lived significantly longer lives after a mesothelioma diagnosis than people without the gene mutation.

BAP1’s link to mesothelioma has also helped scientists better understand the disease, and patients who may be at risk for mesothelioma can be screened for the BAP1 mutation. This screening enabled doctors to catch mesothelioma in earlier stages or increase routine testing for people who don’t have the disease.


Recent research has identified mutations in several additional genes, including SF3B1 and TRAF7, which lead to mesothelioma in a similar manner to the BAP1 gene mutations. Mesothelioma specialists have now identified more than ten genetic variants that could play a significant role in the development of the disease. Research will continue into these genetic mutations in hopes of better understanding, diagnosing, and treating mesothelioma.

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SV40 Virus

Laboratory tests have shown that simian virus 40, or SV40, may be a risk factor for mesothelioma. SV40 is a virus that originated in monkeys and was potentially passed on to millions of Americans from 1954 to 1960. SV40 was accidentally included in the polio vaccine administered at that time because the vaccines are made from monkey cells.

SV40 causes a genetic mutation in mesothelial cells that activate IGF-1, one of the receptors that enable tumors to grow. Further, it has the unique ability to hide within the DNA of human cells without dying, essentially modifying the cells on a genetic level.

Several tests exist for identifying SV40 and can be administered to patients who may have received an infected polio vaccine.

Current Research Into Mesothelioma Genetics

Mesothelioma is a growing concern across the world as more individuals are being diagnosed with the disease. Genetics is a promising field of research, and many believe it’s the key to beating the disease. As a result, there are numerous mesothelioma research projects that focus on genetics, including the International Mesothelioma Program’s Genomic Project and the EDRN Mesothelioma Biomarker Discovery Lab.

International Mesothelioma Program’s Genomic Project

Scientists around the world are attempting to learn more about the genomic patterns of mesothelioma in hopes of better diagnosing the disease. One of the primary sites of this research is through the International Mesothelioma Program’s (IMP) genomic project.

The scientists at IMP have already examined the genomic map of numerous mesothelioma tumors, effectively identifying mutational profiles. These same scientists have also collected cancerous and non-cancerous samples from the same donors, allowing scientists to identify the genetic differences between healthy tissues and cancer tissues.

IMP is now looking at the mutations found within tumor subtypes. Each mesothelioma tumor is unique, but similar tumors will have many of the same mutations. By identifying which mutations are present in mesothelioma, cancer researchers will likely be able to develop new diagnostic tests and potentially create targeted treatments.

EDRN Mesothelioma Biomarker Discovery Lab

The National Cancer Institute’s Early Detection Research Network has funded several Biomarker Development Labs, including the EDRN Mesothelioma Biomarker Discovery Laboratory. Led by mesothelioma expert Dr. Harvey Pass, the Biomarker Discovery Lab is researching the presence of three genetic biomarkers that could help with earlier detection and diagnosis of malignant pleural mesothelioma. These biomarkers are HMGB1, FBN3, and SOMAmer.

Other Notable Genetic Research

Dr. David Sugarbaker, Dr. Raphael Bueno, and several of their peers developed a genetic test for mesothelioma called the four-gene ratio test that has proven to help predict survival outcomes for patients receiving pleural mesothelioma surgery. The four-gene ratio test is now used to determine whether a patient is a good candidate for surgery, or if alternative therapies should be considered instead.

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Ethical Considerations of Genetic Diagnosis

Genetic research is an intriguing field for researchers but isn’t without its moral quandaries. There are many moral, social, and legal questions that arise from genetic testing, which may impact the future access or development of these tests.

A few of the key ethical questions under consideration include:

  • Can insurance providers discriminate against people based on genetic results?
  • Should genetic tests be confidential when others may be impacted by the results?
  • Is it truly in a person’s best interest to know they have the gene for a disease they may never get? How does this shape a person’s future?
  • What rights do parents have to impose genetic tests on children whose lives may be permanently impacted by the knowledge?

Genetic testing is being developed with the right intentions, but there are serious ethical questions and an impending need for clear legal and ethical guidelines.

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Mesothelioma Hope was founded by a team of passionate health advocates to educate people about this aggressive form of cancer. Mesothelioma affects thousands of people each year. Our team works tirelessly to give hope to those impacted by mesothelioma. Learn more about operating principles and our Editorial Guidelines.

7 References
  1. National Cancer Institute. “The Genetics of Cancer.” Retrieved from Accessed on January 8, 2018.

  2. Research Portfolio Online Reporting Tools. “Project Information.” Retrieved from Accessed on January 8, 2018.

  3. International Mesothelioma Project. “Genomic Project.” Retrieved from Accessed on January 8, 2018.

  4. National Cancer Institute. “Early Detection Research Network.” Retrieved from Accessed on January 8, 2018.

  5. Journal of the National Cancer Institute. “Using Gene Expression Ratios to Predict Outcome Among Patients With Mesothelioma.” Retrieved from Accessed on January 8, 2018.

  6. University of Hawaii Cancer Research Center. “Michele Carbone, MD, Ph.D.” Retrieved from Accessed on January 8, 2018.

  7. NCBI Bookshelf. “Assessing Genetic Risks: Implications for Health and Social Policy.” Retrieved from Accessed on January 8, 2018.

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