Researchers Discover BAP1 Mutation in Mesothelioma

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BAP1 Mutation Finding Associated with Improved Survival Rate

New research shows that genetic inheritance of the BAP1 protein mutation could lead to an eventual diagnosis of mesothelioma, the deadly cancer caused by prolonged asbestos exposure. This research started a spiral of new research looking into the two types of BAP1 genes, an inherited germline BAP1 mutation from parent to child and an inactive BAP1 mutation. The identification of the BAP1 gene mutation has paved the way to learning more about how mesothelioma medical centers can aid with the early treatment of the cancer.

In 2019, the University of Hawaii released its research showing the role of the high mobility group box protein 1 (HMGB1) and the rapid increase of mesothelioma cancer cells. HMGB1 is a protein that exists inside a damaged or dying cell. When someone inhales or ingests asbestos, HMGB1 is released outside of the cell causing an inflammatory response and spreading to infect other cells. A cycle of inflammation and transference of the HMGB1 protein to other cells leads to the formation of mesothelioma. A similar process can happen in other types of cancer as well.

We know that asbestos causes mesothelioma, but until now, we weren’t aware of how it caused cancer. The discovery of how the HMGB1 protein multiples cancer cells causing mesothelioma, will allow doctors more insight while studying cancer to understand how to treat it better. Research is currently research being done into using the inhibitors of HMGB1 to help slow down the multiplication of cancer cells. Glycyrrhizin is one of the inhibitor drugs which can be used as a chemotherapy treatment for cancer. Glycyrrhizin has an anti-inflammatory response that could stop the release of HMGB1 and possibly slow the growth of mesothelioma.

BAP1 Gene and Germline Mutations

A functioning BAP1 gene helps with the responsibility of cell growth, DNA repair, and programmed cell death. It is part of a group of tumor-suppressing proteins that prevent cells from dividing too quickly and spreading. A mutation of the BAP1 gene disrupts the normal processes of cell division and growth and can quickly allow mesothelioma, and other cancers, to metastasize and overtake the body and lungs.

Germline mutations are a gene change that is passed down through your reproductive egg or sperm, which come from your parents. The gene change affects the DNA chain of every cell in the body and sometimes can create a high chance for those with them to develop diseases or disorders. Mesothelioma specialists and doctors alike, research into the BAP1 gene has shown that a mutation of the gene can be carried from parent to child. The passing of a mutated BAP1 gene may increase your likelihood of contracting mesothelioma.

The discovery of this mutation in mesothelioma means those families with a history of mesothelioma can test themselves for the gene mutation. Discovering this lets a person know their chances of contracting cancer and their likely survival through it. They can then take preventative steps so if they contract cancer, it is caught in the early stages where it’s manageable and localized. Often when mesothelioma is showing advanced symptoms, a patient has entered stage 3 or 4, significantly lowering access to treatments. Patients who have reached the end-stage of cancer should consider mesothelioma palliative care to mitigate their pain and discomfort.

For those who have tested and learned about your BAP1 mutation, there is a positive to take from your diagnosis. Being aware of your mutation allows you to enroll in frequent screenings and tests to catch mesothelioma early. Finding mesothelioma in stage 1 gives you the best prognosis out of all stages of cancer. You have the widest options for treatment and overall care since tumors are localized and easier to treat.

Clinical Trials for Patients With BAP1 Mutation 

There are few clinical trials specifically open for people who have a BAP1 mutation. Sometimes the trials also research the mutation’s effect on other cancers such as uveal melanoma and hepatocellular carcinoma. These trials aim to find therapies for treating the specific cancers present with the mutation. The medical doctors and researchers involved have a variety of backgrounds and specialties, including access to a mesothelioma doctor. Each trial has a different focus, and they can include research into immunotherapy, personalized treatment plans, cancer screening and surveillance, and more.

A National Institutes of Health Clinical Center trial is currently recruiting 1,000 mesothelioma patients and their families in Bethesda, Maryland, who have the BAP1 mutation throughout their family. Their ultimate goal is to help understand how cancer develops in people with certain gene mutations. The study will include yearly check-ins with a physical exam, lab tests, scans, and other necessary tests.

Another clinical trial hosted by the same center is focused on the BAP1 mutation of hereditary predisposition syndrome. This syndrome can come in multiple forms depending on what gene you are referencing it with. For people with the specific BAP1 hereditary predisposition syndrome, their risk of contracting mesothelioma, melanoma, or kidney cancer is very high. This trial is focused on learning more about novel screening, prevention, and treatment strategies for those three specific cancers with germline mutations.

In the United States alone, 2,500 to 3,200 people are diagnosed with mesothelioma yearly. These clinical trials are furthering knowledge and understanding of mesothelioma so that they can create new therapies to help those suffering. The continued success of the information gathered from research keeps hopes high for everyone affected by mesothelioma.

Genetic Testing for BAP1 Mutation

You can figure out how to manage your health by determining if you have the BAP1 gene from a genetic test. Ensuring you are properly diagnosed for mesothelioma is important so you can access treatment as soon as possible because late-stage mesothelioma has  high mortality rates. The field of genetic testing has grown to look more in-depth at genes and DNA and what they can tell us. The tests today allow doctors to view genes, proteins, and chromosomes separately to test for genetic conditions and how likely having the disease or disorder actually is. Sometimes, doing a genetic test can prepare a person for their impending diagnosis and allow for better treatment options since the disease may still be developing or not exist yet.

For specific BAP1 mutation genetic testing, you can order the at-home test kit online at Invitae, Blueprint Genetics, or similar places. The preferred specimen sample is blood, but you can also give a salival or buccal swab, on the inside of your cheek. This test aims to confirm a diagnosis for further treatment or care so that people can begin to grasp their options. Contact your doctor or primary care physician to learn more about accessing genetic testing outside of at-home tests. Don’t wait to learn about your options if you are at high risk of developing mesothelioma. Act now to learn about the latest mesothelioma news and how our patient advocates can help you.


Last updated on July 25th, 2023 at 01:49 pm

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