A group of doctors and scientists from Europe and the UK got together to create guidelines to help people with changes to their BAP1 gene.
This gene helps prevent tumors in our bodies. Changes in this gene can make people more likely to get different kinds of tumors, like mesothelioma. These changes run in families and are passed down from parents.
BAP1 Gene Changes and Their Link to Mesothelioma
These gene changes are passed down in families and can be tested for. If someone has the gene change, their family members can also get tested. This helps them know if they’re at risk for tumors and how to find them early.
People with these gene changes have up to an 85% chance of developing cancer in their lifetime. But because we might not know about all the people who have these gene changes, the actual risk might not be as high as we think.
Doctors don’t have all the answers about how often people with these gene changes should be checked for tumors. Some think too much checking might lead to unnecessary tests, while too little checking might miss finding a tumor when it’s still treatable.
European Doctors Unite to Create Guidelines for BAP1 Gene Variants
Even though some guidelines for checking have been made in the U.S. and Australia, there’s not a lot of clear evidence yet. In Europe, there haven’t been guidelines made. To help with this, a group of doctors in the UK asked other experts from Europe to work together to create guidelines to help people with these gene changes know when and how often to get checked for tumors.
The goal is to find a balance between checking often enough and not causing too much stress or spending too much money. These guidelines will help doctors and patients make good decisions about staying healthy.
Where mesothelioma is concerned, the doctors agreed that there is no need to monitor BAP1 carriers for mesothelioma. This could change as we learn more about how the BAP1 gene affects mesothelioma growth.
Lalloo F, Kulkarni A, Chau C, et al. Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome [published online ahead of print, 2023 Aug 22]. Eur J Hum Genet. 2023;10.1038/s41431-023-01448-z. doi:10.1038/s41431-023-01448-z. https://www.nature.com/articles/s41431-023-01448-z