2020 BTF Research Award: A novel genetic cause of medullary thyroid carcinoma, Professor Márta Korbonits

How the BTF Research Award made a difference

Medullary thyroid cancer (MTC) is a relatively rare but aggressive type of thyroid cancer which is frequently genetically determined and therefore runs in families.

Most of these familial tumours are known to be related to mutations of a gene called RET, which has allowed clinicians to diagnose these tumours early in family members, and thus assist in prophylactic surgery to avoid the development of the cancer, especially in young children. However, some familial MTC does not appear to involve RET, and we have used our BTF Research Award to identify a wholly new gene mutation in families who develop MTC without RET mutations. The grant has also allowed us to explore the nature of this gene, its possible involvement in known proliferative pathways, and to develop stable cell lines which allow us to study its mechanism of action.

From the patients’ viewpoint, we can now use this information to demonstrate which family members in such families are likely to develop MTC, and hence we can offer surveillance and early operation to avoid cancer development. This will also help to exclude family members who are not at risk.

In the longer term, understanding the mechanism for tumour development in these patients may lead the way to find novel medical therapies for both these families, and quite possibly for the larger group of patients with sporadic MTC. This is an exciting and fast-developing area of research which has direct implications for patient care, and would not have been possible but for the BTF Research Award.

Professor Márta Korbonits

BTF Research Award Appeal  

'Without BTF funding this research simply would not happen.' - Prof Chris McCabe, Birmingham

Prof Korbonits' study is just one example of how our BTF Research Award has led to improvements in the diagnosis and treatment of thyroid disease.

We are very proud to have funded over £500,000 of vital thyroid research over our BTF Research Award's 25-year history. But we won't stop here!

There are still so many aspects of thyroid disease that require research. That's why we have launched our 'BTF Research Award Appeal' to raise £20,000 for thyroid research.

Can you help us raise £20,000 through our appeal, please? With your support, we can continue to fund the next generation of researchers who are dedicated to improving the lives of people living with thyroid disorders. Thank you

Please donate to our appeal