DGCR8 microprocessor subunit mutation and expression deregulation in thyroid lesions

Rodrigues, Lia; Canberk, Sule; Macedo, Sofia; Soares, Paula; Vinagre, João

http://hdl.handle.net/10400.22/25369

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Abstract(s)

Deregulation of microRNA (miRNA) processing is a driver event in several tumours including thyroid cancer. DiGeorge Critical Region 8 (DGCR8) gene holds a critical role in miRNA biogenesis, as a microprocessor complex component, and in the development of the thyroid. Previous studies identified a DGCR8 mutation – the variant c.1552G>A p.(E518K) – in cases of thyroid cancer and proposed to cause a familial syndrome characterized by multinodular goitre (MNG) and schwannomatosis. The goal of this study was to characterize the variant p.(E518K) of DGCR8 in thyroid lesions and evaluate its expression.

Keywords

miRNA Thyroid cancer Microprocessor complex DGCR8 p.(E518K)

URI

http://hdl.handle.net/10400.22/25369

Citation

Rodrigues, L., Canberk, S., Macedo, S., Soares, P., & Vinagre, J. (2023). DGCR8 microprocessor subunit mutation and expression deregulation in thyroid lesions. Trends in Biomedical Laboratory Sciences Abstract Book, 1, nº1 supplement, 29.