Study of DICER1 gene variants in patients with multinodular goiter

• Grant number: 19/26574-0
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: April 01, 2020
• End date: March 31, 2022
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Suemi Marui
• Grantee: Lara Judith Cabral Miranda
• Host 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.

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

LARA JUDITH CABRAL MIRANDA; DÉBORA L. S. DANILOVIC; FELIPE AUGUSTO BRASILEIRO VANDERLEI; MARCOS ROBERTO TAVARES; NICOLAU LIMA NETO; ROSALINDA YOSSIE ASATO DE CAMARGO; SUEMI MARUI. Prevalence of DICER1 variants in large multinodular goiter: thyroid function, clinical and imaging characteristics. ARCHIVES OF ENDOCRINOLOGY METABOLISM, v. 68, 2024-02-19. (19/26574-0)