From the blog

People with an Inherited Mutation on the BLM Gene Could Be More at Risk of Developing Mesothelioma

Published: January 8, 2021

New research from the University of Hawaii is showing that the inherited mutation on the BLM gene can increase the chance of getting mesothelioma. The researchers sequenced the DNA of 155 mesothelioma patients. People without the BLM gene were more likely to develop mesothelioma, especially when exposed to carcinogenic asbestos fibers. If people find out they have the BLM gene, they can decrease their chances of developing mesothelioma by avoiding asbestos.

Many people who were exposed to asbestos at work develop mesothelioma later in life. Not everyone gets cancer, so researchers are studying to find out why this is the case. They do know though that genetics are an important part. Researchers found out earlier that a mutation in the BAP1 gene increases people’s chance of getting several cancers including mesothelioma, leading to them studying other genetic mutations. When people have two BLM genes inherited from both their parents, they end up having Bloom Syndrome. Only 1 in 900 people has the mutation and most people don’t know they have it.

When people have too little of the BLM gene encoded protein, different responses in the body can occur including inflammation, genetic instability, and the prevention of mesothelioma cells from dying like normal cells. Mice were exposed to asbestos, and the mice with the BLM genetic mutation had a higher rate of developing mesothelioma compared to the control group. They also did lab tests on mutated human cells and saw the same results. When the researchers sequenced the DNA of 155 mesothelioma patients, they found that 33 of them had multiple mesothelioma cases in their families. Two of those 33 had the BLM genetic mutation. Some of the people’s family members who had the BLM gene ended up developing mesothelioma and none of the relatives without the gene had mesothelioma.

Of the 122 non-family mesothelioma cases, five people had the mutation, meaning seven of 155 unrelated mesothelioma patients had BLM mutations. This number is higher than the frequency of people with the BLM mutation in the general population.

Mesothelioma is a very aggressive cancer of the mesothelium, which is a membrane that surrounds different organs including the lungs, abdomen, heart, and testicles. People exposed to asbestos are at risk of developing the cancer with the most common type being pleural and the second most common being peritoneal (abdominal).

Angela Bononi et al., “Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma” PNAS (December 29, 2020). [Link]
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