DICER1 Syndrome: DICER1 Mutations in Rare Cancers

被引：93

作者：

Robertson, Jake C. ^{[1
]}

Jorcyk, Cheryl L. ^{[1
,2
]}

Oxford, Julia Thom ^{[1
,2
]}

机构：

[1] Boise State Univ, Dept Biol Sci, Boise, ID 83725 USA

[2] Boise State Univ, Biomol Res Ctr, Boise, ID 83725 USA

来源：

CANCERS | 2018年 / 10卷 / 05期

基金：

美国国家卫生研究院;

关键词：

DICER1; syndrome; DICER1 germline mutations; miRNA; rare genetic disorder; cancer; CERVICAL EMBRYONAL RHABDOMYOSARCOMA; DIFFERENTIATED FETAL ADENOCARCINOMA; CORD-STROMAL TUMORS; LEYDIG CELL TUMORS; CYSTIC NEPHROMA; GERM-LINE; PLEUROPULMONARY BLASTOMA; MULTINODULAR GOITER; HOTSPOT MUTATIONS; ANAPLASTIC SARCOMA;

D O I：

10.3390/cancers10050143

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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.

引用

页数：17

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