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Study of DICER1 gene variants in patients with multinodular goiter

Grant number: 19/26574-0
Support type:Scholarships in Brazil - Scientific Initiation
Effective date (Start): April 01, 2020
Effective date (End): March 31, 2022
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal researcher:Suemi Marui
Grantee:Lara Judith Cabral Miranda
Home Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil

Abstract

Goiter, an enlargement of the thyroid gland, is a common disease and can present as multiple areas of nodularity, characterizing multinodular goiter (MNG). Chronic iodine deficiency is the well-known cause of MNG. In iodine sufficient populations, MNG is more common in women and older patients. Rare germline mutations are associated to goiter development and the most recently found were associated with DICER1 syndrome, an autosomal dominant disorder in which there is dysfunction of endonuclease DICER1, a pre-miRNA processor RNase-III in mature miRNA. Patients with this syndrome are characterized by several tumors, malignant and benign, including lung, ovary/testis, and kidney and thyroid. Papillary thyroid carcinoma was found in these patients as well as benign thyroid nodularity. Therefore, this study aims to identify genetic variants in the DICER1 gene in patients submitted to thyroidectomy due to MNG and correlate with clinical and laboratory data, defining the prevalence of variants in this gene in this institution.

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