DICER1 Syndrome: A Comprehensive Review

Document Type

Student Presentation

Presentation Date

April 2017

Faculty Sponsor

Julia Oxford


DICER1 syndrome is a rare genetic disorder that predisposes an individual to a variety of cancerous and noncancerous tumors, most prevalent of which are the three types of pleuropulmonary blastomas. The Dicer complex, coded for by the DICER1 gene (located on the long arm of chromosome 14 at position 32.13), is responsible for translational control of protein synthesis from mRNA transcripts. Dicer cuts up precursor RNA (which itself is synthesized from DNA), producing microRNAs; these microRNAs go on to bind other mRNA molecules in tandem with the RISC complex. Often times, protein products from certain mRNAs can lead to detrimental effects in an organism, but the binding of these mRNAs by microRNAs blocks protein production from the mRNAs in question, leading to overall biological control and homeostasis.

Individuals with DICER1 syndrome contain a germline mutation in the DICER1 gene, passed down from a parent, resulting in a nonfunctional or absent Dicer complex. This complication disrupts one of the primary mechanisms of control that cells utilize, often leading to catastrophic consequences within the body, including pleuropulmonary blastomas, cystic nephromas, and Sertoli-Leydig cell tumors, to name a few.

The purpose of this study is to conduct a comprehensive review of the current research on DICER1 syndrome, and to compile it into a usable format with the most pertinent information for physicians and future researchers.

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