DICER1 Syndrome: DICER1 Mutations in Rare Cancers

Authors

Jake C. Robertson, Boise State University
Cheryl L. Jorcyk, Boise State UniversityFollow
Julia Thom Oxford, Boise State UniversityFollow

Document Type

Article

Publication Date

5-2018

DOI

http://dx.doi.org/10.3390/cancers10050143

Abstract

DICER1 syndrome is a rare genetic disorder that predisposes individuals to multiple cancer types. Through mutations of the gene encoding the endoribonuclease, Dicer, DICER1 syndrome disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression. Since the first description of DICER1 syndrome, case reports have documented novel germline mutations of the DICER1 gene in patients with cancers as well as second site mutations that alter the function of the Dicer protein expressed. Here, we present a review of mutations in the DICER1 gene, the respective protein sequence changes, and clinical manifestations of DICER1 syndrome. Directions for future research are discussed.

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

Publication Information

Robertson, Jake C.; Jorcyk, Cheryl L.; and Oxford, Julia Thom. (2018). "DICER1 Syndrome: DICER1 Mutations in Rare Cancers". Cancers, 10(5), 143-1 - 143-17.