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Approved research

Identification of common genetic modifiers of risk of vestibular schwannoma

Principal Investigator: Dr Miriam Smith
Approved Research ID: 50720
Approval date: January 14th 2020

Lay summary

Vestibular schwannomas (VSs) are benign tumours that arise from hearing nerves in the brain. These nerves are responsible for hearing and balance function. Tumours that grow on these nerves can cause deafness, tinnitus and balance problems. Currently the main treatment for VS tumours is surgery. VSs can occur by chance in some people with no family history and no genetic diagnosis. They can also occur as part of the disease, neurofibromatosis type 2 (NF2). When they occur by chance the tumours are normally found to have acquired mutations in both copies of the NF2 gene. NF2 disease is caused by mutation of one copy of the NF2 gene in all cells that can be passed on through families. When one cell acquires a mutation in the second copy of NF2, this causes a tumour to develop. Almost everyone with NF2 disease will develop VSs on both of their hearing nerves during their lifetime. Studies done in families affected by VS tumours, but with no NF2 mutations have identified LZTR1 as a second causative gene. However, these two genes still do not account for all cases of VS. This suggests that there are more genetic variants involved in VS tumour development that are yet to be discovered. Over 30 months our study aims to find genetic variants that are relatively common within the general population, which might increase the risk of developing a VS tumour. By finding these variants and calculating the effect they have on VS risk it would be possible to create a prediction score for risk of VS. Calculating individual risk scores would inform clinical management for people with these tumours. An improved understanding of the genetic variants that cause VS tumours could also identify new targets to develop future drug treatments.