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Identifying novel germline variants causing NETs

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Lay summary

Neuroendocrine tumours (NETs) often occur in families as part of an inherited disorder. Some of the genes causing these disorders have been identified, e.g. MEN1, however for many patients the genetic cause of the disorder is not known. This means diagnosis may be challenging, and it is not possible to identify additional family members that could also be affected. In our project we therefore aim to identify additional genes causing inherited NET disorders by examining the families in the NET GeCIP. We will initially use computer-based models to identify possible candidate genes. Once these candidates have been selected we will undertake laboratory-based studies to determine if they are likely to be causing the NETs to develop. Overall, we aim to find new genes causing inherited NET disorders to help in diagnosis, treatment of these patients, as well as genetic testing of additional family members.

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