The BAP1-Interest Group (BIG) Consortium

The BAP1-interest group (BIG) consortium (http://www.bap1.org/) was formed by Professor Nick Hayward and Dr Mohamed Abdel-Rahman as a way to put the minds of many international professionals together to work on research about the BAP1-Tumour Predisposition Syndrome (BAP1-TPDS). For more information on BAP1 and BAP1-TPDS see here.

The main goal of the Consortium is to gather information from as many sources as possible. The more cases and families that are included in this research, the more likely it is that we will reach the correct conclusions. This will help us to more confidently answer questions about the genes and the types of genetic changes involved. It will also help us to provide advice to people who discover that they carry the faulty gene (BAP1 mutation carriers).

The Consortium recently published its first paper in the Journal of the National Cancer Institute (https://academic.oup.com/jnci/article-abstract/110/12/1328/5230009). The article provides a detailed review of BAP1-TPDS families worldwide (families who carry mutations in the BAP1 gene). Information for this review was gathered about carriers and their relatives. The results showed that 25% of carriers in this study had been diagnosed with uveal (eye) melanoma, 20% with mesothelioma (a cancer of the lining of organs, such as the lung), 17% with melanoma of the skin and 10% with kidney tumours. We also found that the types of tumours associated with the syndrome include meningioma (a cancer of the membranes covering the brain and spinal cord), basal cell carcinoma (a common form of skin cancer) and cholangiocarcinoma (a cancer of the bile duct which drains waste products from the liver to and from the gall bladder). Although the study describes the proportions of carriers with different tumour types in our review, it is not possible to be certain of the absolute lifetime risk of developing these tumours (if diagnosed with the BAP1-TPDS). Further research is needed, which would also help to account for biases in how the participants were recruited to the studies. This would also provide a more accurate prediction of the risk, which will be very useful information for people who are being tested for the faulty gene. Put another way, the research shows that families with inherited faulty BAP1 genes (genes with mutations) are at increased risk of different sorts of cancers including cancers of the eye, skin, kidneys, bile ducts, mesothelium and the coverings of the brain (meningioma), but we cannot as yet provide information about how likely a gene carrier is to develop particular cancers during their lifetime. There is a tendency for early research on cancer-causing genes to exaggerate the risks associated with those faulty genes. This makes it difficult to put in place the most effective screening tests, e.g. body scans.

While this is the largest review of the BAP1-TPDS to date, there is still a substantial amount of research needed to fully understand this syndrome and there is significant work to be done to determine what long-term screening (testing) and surveillance (follow-up) is appropriate.

If you have any questions regarding collaboration or the BAP1-TPDS, please feel free to email Nick Hayward (nick.hayward@qimrberghofer.edu.au) or Mohamed Abdel-Rahman (Mohamed.Abdel-Rahman@osumc.edu).