Key Takeaways
- The BAP1 gene is a tumor-suppressing gene that controls critical cellular processes — including tumor growth inhibition, programmed cell death, and DNA repair. It is mutated in approximately 60–70% of all mesothelioma cases.
- A BAP1 mutation can be inherited (germline mutation) or caused by external factors like asbestos exposure. Either way, the mutation disables the body’s natural safeguards against uncontrolled cancer cell growth.
- There are no signs or symptoms of a BAP1 mutation itself — it can only be detected through genetic screening. People with family members who have been diagnosed with mesothelioma should consider testing.
- Individuals with a known BAP1 mutation may be recommended for annual screenings starting as young as age 30 — including X-rays, ultrasounds, and MRIs — because the mutation is associated with mesothelioma, melanomas, and carcinomas.
- A BAP1 mutation cannot be reversed, but treatments exist that mimic or compensate for its lost functions — including immunotherapy to restore antitumor immunity, enzyme-mimicking treatments, and PARP inhibitors that block cancer cells from repairing their own DNA.
- Genetic screening for BAP1 can lead to a faster mesothelioma diagnosis, which is directly linked to improved treatment options and prognosis.
What is the BAP1 Gene?
Although mesothelioma is causally related to asbestos exposure, asbestos exposure often incites
local inflammation and genetic mutations. In approximately 60-70% of all mesothelioma cases,
the BAP1 gene is mutated (and although this mutation can be inherited, it can also be mutated
via epigenetics and external factors, like ingested asbestos). In healthy individuals, the BAP1
gene is responsible for coding proteins that control tumor growth–these proteins inhibit
extensive cellular growth, regulate programmed cell death, and control normal DNA repair,
among other regulatory functions.
When the BAP1 gene suffers a mutation, then all of the functions that fall under its “watch” are
hijacked. By effect, a BAP1 mutation serves mesothelioma: cellular proliferation and death are
no longer regulated, so cancerous cells aren’t bound by the body’s natural safeguards.
Can you Tell if you Have a BAP1 mutation?
Although there aren’t signs or symptoms of a BAP1 mutation, you can receive genetic screening
to test for BAP1, especially if several family members have received a mesothelioma diagnosis.
If the mutation is present, your medical record will reflect that. Because BAP1 mutations are
associated with cancers beyond mesothelioma, you will likely receive yearly screenings for these
cancers (which include melanomas and carcinomas). Some researchers suggest a yearly X-Ray,
ultrasound, and MRI for asymptomatic patients (with the BAP1 mutation) as young as 30.
If you begin presenting with symptoms that align with mesothelioma, you’re more likely to
receive a faster diagnosis considering your medical record indicates a heightened risk of onset. In
addition, if you’ve suffered a known exposure to asbestos and have a mutated BAP1 gene, you’re
more likely to be tested for mesothelioma before other more common diseases.
Can a BAP1 Mutation be Reversed?
A BAP1 mutation cannot be reversed, but there are treatments and clinical trials that mitigate the
effects of the mutation. Because the effects of the BAP1 mutation are multifaceted in nature–as
the gene contributes to several distinct cellular processes–an approach that is also multifaceted is
necessary. Some immunotherapeutic options help to build immunity so that extant immunity can
“take over” the antitumor capacities of the BAP1 gene. Other treatment options introduce
enzymes that mimic the functions of BAP1-associated proteins and enzymes. Still other options
involve the blocking of enzymes (called PARP) that repair damaged DNA in cancer cells; if
cancerous DNA cannot be repaired, then the cells cannot reproduce.
Because researchers have established BAP1 and mesothelioma as being causally related, patients
can undergo genetic screening to receive a faster diagnosis; a quick diagnosis is directly linked to
improved patient outcomes and prognosis. Ideally, relatives of mesothelioma patients can receive
genetic counseling to help determine the best course(s) of action if they have a BAP1 mutation.
If you or a loved one has been diagnosed with mesothelioma, please call 1 (800)-505-6000 or fill
out our form. We are here to help you navigate the legal process of filing a claim to receive
compensation for your mesothelioma diagnosis. We help mesothelioma victims and their
families in Pennsylvania.
Frequently Asked Questions
What is the BAP1 gene and what does it do?
BAP1 is a tumor-suppressing gene — when functioning normally, it encodes proteins that perform several critical protective roles in the body, including inhibiting tumor growth, regulating programmed cell death (apoptosis), and controlling normal DNA repair. When BAP1 is working correctly, it acts as one of the body’s natural safeguards against cancer.
How is BAP1 related to mesothelioma?
The BAP1 gene is mutated in approximately 60–70% of all mesothelioma cases. When BAP1 suffers a mutation, all of the tumor-suppressing functions it controls are disrupted — meaning cancerous cells are no longer regulated by the body’s natural safeguards. Cellular growth becomes unchecked, programmed cell death stops functioning properly, and DNA repair mechanisms are compromised. This creates the conditions for mesothelioma to develop and spread.
Can a BAP1 mutation be inherited?
Yes. A BAP1 mutation can be inherited from a parent — this is called a germline mutation. Individuals who inherit a BAP1 mutation have a higher genetic predisposition to developing mesothelioma and other cancers, including melanomas and renal cell carcinomas. However, BAP1 mutations can also be acquired through external factors like asbestos exposure and epigenetic changes — meaning even people without a family history can develop a BAP1 mutation.
Should I get tested for a BAP1 mutation?
Genetic screening for BAP1 is particularly recommended if multiple family members have been diagnosed with mesothelioma or other cancers associated with BAP1 mutations (melanomas, carcinomas). There are no outward signs or symptoms of a BAP1 mutation — it can only be detected through genetic testing. If the mutation is found, your medical record will reflect the heightened cancer risk, which can lead to earlier screening, faster diagnosis, and better outcomes if cancer does develop.
What screening is recommended for people with a BAP1 mutation?
Some researchers recommend annual screenings starting as early as age 30 for asymptomatic individuals with a known BAP1 mutation. Recommended screenings may include:
- Chest X-ray
- Ultrasound
- MRI
Because BAP1 mutations are associated with multiple cancer types beyond mesothelioma, patients may also receive yearly screenings for melanomas and carcinomas. The goal is to detect any cancer as early as possible, when treatment options are most effective.
Can a BAP1 mutation be fixed or reversed?
No — a BAP1 mutation cannot be reversed. However, several treatment approaches aim to compensate for the lost functions of the mutated gene:
- Immunotherapy — helps rebuild the body’s natural immunity so existing immune cells can take over some of the antitumor functions that BAP1 normally controls
- Enzyme-mimicking treatments — introduce synthetic versions of the proteins and enzymes that BAP1 normally produces
- PARP inhibitors — block an enzyme called PARP that cancer cells use to repair their damaged DNA. Without DNA repair, cancerous cells cannot reproduce.
What are PARP inhibitors and how do they treat mesothelioma?
PARP inhibitors are drugs that block an enzyme called PARP, which cancer cells rely on to repair damage to their DNA. When PARP is blocked, cancer cells cannot fix their own DNA damage and are unable to reproduce, effectively slowing or stopping tumor growth. PARP inhibitors are particularly relevant for patients with BAP1 mutations because the mutation already disables normal DNA repair pathways — adding a PARP inhibitor creates a double hit to the cancer cell’s ability to survive and proliferate.
What should I do if I have a family history of mesothelioma?
If multiple family members have been diagnosed with mesothelioma or other BAP1-associated cancers, genetic counseling and screening for BAP1 mutations is an important step. Knowing your genetic status can lead to proactive monitoring, earlier detection, and better outcomes. For information about mesothelioma legal options for you or your family, call (800) 505-6000 or fill out our contact form for a free consultation.
Sources:
National Library Of Medicine 1
