How Do Genes Help Diagnose Mesothelioma?
There are two ways that genetics may be used to diagnose mesothelioma.
- Genetic testing of tumors to confirm a mesothelioma diagnosis and determine what stage it’s in
- Genetic testing for genes passed down through families that may increase the risks of mesothelioma
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. A better understanding is needed before patients can be diagnosed solely by genetics.
Download our Free Questions to Ask Your Doctor Checklist to get the answers you need when meeting with your health care provider about a potential mesothelioma diagnosis.
Genetic Tumor Testing for Mesothelioma
Cancer researchers can test tumors for specific genetic patterns and use 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, mesothelioma genetic testing can be used to distinguish mesothelioma from other diseases that have similar symptoms and mutations.
For example, one test allows scientists to differentiate between pleural mesothelioma and lung adenocarcinoma. The ability to properly identify mesothelioma is critical to developing appropriate and effective treatment plans.
Genes That May Cause Mesothelioma
The main cause of mesothelioma is exposure to asbestos, a very durable and toxic mineral. That said, some genes or mutations to genes may increase a person’s risk of this cancer.
BAP1 Gene Mutation
Dr. Michele Carbone was funded by the National Cancer Institute (NCI) to identify a “mesothelioma gene,” after mesothelioma epidemics occurred within several isolated family groups. Dr. Carbone and his team discovered a gene called BAP1 that led to mesothelioma when mutated.
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 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 with mesothelioma than patients 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 may allow doctors to catch mesothelioma in earlier stages or increase routine testing for people who don’t yet have the disease but are at risk.
2023 Update on BAP1 Gene Mutation
In a study published in January 2023, Dr. Carbone and a team of other researchers discovered that when only one copy of the BAP1 gene is present, the HIF1 protein is absent, which makes it more difficult for mesothelioma tumor cells to thrive in a low-oxygen environment. This helps explain why mesothelioma patients live significantly longer with a BAP1 gene mutation.
This study shows that targeting BAP1 activity may make mesothelioma and other cancers more responsive to therapy and help improve survival rates.
“Two clinical trials have been opened at the National Cancer Institute Clinical Center in Bethesda, Maryland, to treat and study affected individuals in these [BAP1] families. We hope findings from this study may enable clinicians to offer their patients more targeted treatment options faster,” Dr. Carbone explained.
SF3B1 & TRAF7
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.
Use our Free Doctor Match to find local specialists who are skilled in mesothelioma diagnosis and treatment.
SV40 Virus & Mesothelioma Genetics
Laboratory tests have shown that simian virus 40, or SV40, may possibly lead to genetic mutations that cause 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 were 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 genetics is a promising field of research, and many believe it’s the key to diagnosing and treating this cancer more effectively.
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 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.
The scientists have also collected cancerous and non-cancerous samples, allowing them 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 NCI’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. Raphael Bueno, the late Dr. David Sugarbaker, 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.
Get your copy of our Free Mesothelioma Guide to learn more about how doctors are helping mesothelioma patients receive life-extending treatment.
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 for mesothelioma and other illnesses, 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?
- Is it 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?
- Should genetic tests be confidential when others may be impacted by the results?
Genetic testing is being developed with the right intentions, but there are serious ethical questions and a critical need for clear legal and ethical guidelines.
Genetics & Mesothelioma: Help for Patients
Genetics will continue to play a large role in diagnosing and treating mesothelioma. If you or a loved one has been diagnosed with mesothelioma from a genetic test or another exam, contact our team for advice on next steps.
Our experienced Patient Advocates can:
- Provide you more details about genetics and mesothelioma
- Connect you with top mesothelioma doctors and cancer centers
- Help you pursue financial assistance for your illness
Get started by requesting your Free Mesothelioma Guide — packed with nearly 100 pages of comprehensive medical information and support resources.
Mesothelioma Genetics FAQs
Is mesothelioma genetic?
Mesothelioma can be genetic in some cases. For example, those who have mutations in their BAP1 gene could be at a higher risk, according to the NCI.
However, the biggest risk factor for mesothelioma is asbestos exposure.
Ask your doctor about tests you can receive to learn about your mesothelioma genetic predisposition.
Does mesothelioma run in families?
Possibly, yes. Mesothelioma can run in families due to genetics and asbestos exposure.
The American Society of Clinical Oncology (ASCO) notes that roughly 1% of mesothelioma cases stem from genes that were passed down to children by their parents.
Mesothelioma (and other asbestos-related diseases) can also run in families due to secondhand asbestos exposure.
For example, if a parent worked around asbestos and came home with microscopic asbestos fibers stuck on their clothing and bodies, their children and other loved ones could develop mesothelioma decades later.
Do doctors use genetics to test for mesothelioma?
Yes. Doctors can look at the genetic makeup of a possibly cancerous cell to determine if you have mesothelioma.
However, a mesothelioma diagnosis can only be confirmed through a biopsy.
If you’re concerned that you might have mesothelioma, make an appointment with a doctor right away so you can get tested.