Identification of a Novel DICER1 Germline Mutation in Thyroid Follicular Adenoma Using Whole Exome Sequencing

Backgrounds: DICER1 protein is a member of the ribonuclease III family of proteins that cleaves non-coding small RNA precursors to generate mature miRNAs, which in turn regulate gene expression post-transcriptionally. Thyroid abnormalities are frequently observed in DICER1 syndrome with multinodular goiter present in families in which a germline DICER1 mutation is segregating. Recently, we identified a germline DICER1 mutation in a family with...