ABOUT THE PROJECT
We aim to characterize the novel DGCR8 tumor susceptibility syndrome and underpin the effects of defective miRNA biogenesis in the formation of thyroid disease, from benign nodules to malignant cancers.
DGCR8-microprocessor syndrome is a familial tumor predisposition syndrome characterized by germline genetic mutations in a gene called DGCR8. Patients with DGCR8 syndrome can be diagnosed with benign (non-life threatening) lesions/tumors such as euthyroid (normal thyroid hormone production) multinodular goitre (enlarged thyroid gland due to the irregular growth of multiple lumps (nodules) in the gland) and peripheral schwannomas (nerve tumors located in the limbs) but can also be diagnosed with serious diseases such as thyroid cancer.
Other benign tumors like a choroid plexus papilloma (a benign brain tumor seen in children) and benign tumors of the ovary have been seen in one patient each but whether those are associated with DGCR8 syndrome is still not clear. It is inherited in an autosomal dominant manner meaning it can pass from parents to their offspring.
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Funding
Mia Neri Foundation
AGAUR
Fundació La Caixa
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