2014年4月24日 · DICER1 tumor predisposition (DICER1) is characterized by an increased risk for pleuropulmonary blastoma (PPB), pulmonary cysts, thyroid gland neoplasia (multinodular goiter, adenomas, and/or thyroid cancer), ovarian tumors (Sertoli-Leydig cell tumor, gynandroblastoma, and sarcoma), and cystic nephroma.

What is DICER1 syndrome? DICER1 syndrome is a genetic disorder associated with an increased risk for developing tumors in the lungs, kidneys, ovaries, thyroid, and several other locations in the body. These growths may be benign (non-cancerous) or malignant (cancerous).

Dicer, also known as endoribonuclease Dicer or helicase with RNase motif, is an enzyme that in humans is encoded by the DICER1 gene. Being part of the RNase III family, Dicer cleaves double-stranded RNA (dsRNA) and pre-microRNA (pre-miRNA) into short double-stranded RNA fragments called small interfering RNA and microRNA, respectively.

2024年12月24日 · DICER1 (Dicer 1, Ribonuclease III) is a Protein Coding gene. Diseases associated with DICER1 include Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor and Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors. Among its related pathways are Gene Silencing by RNA and MITF-M-dependent gene expression.

DICER1 syndrome is an inherited disorder that increases the risk of a variety of cancerous and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the lungs, kidneys, ovaries, and thyroid (a butterfly-shaped gland in the lower neck).

2014年9月1日 · Germline loss-of-function mutations in DICER1 are associated with a pleiotropic tumour susceptibility syndrome, characterized by pleuropulmonary blastoma, cystic nephroma and other rare entities....

What is the DICER1 gene? Everyone inherits two copies of the DICER1 gene from their parents, one from their mother and one from their father. This gene works to manage the function of other genes. In most people, this gene works properly.

2018年5月14日 · In this article, we review the biology of DICER1, associated cancer risks, and other clinical manifestations. Approaches to the diagnosis of DICER1 -associated conditions and risk management recommendations for patients and family members with germline pathogenic variants in DICER1 are presented.

2020年9月18日 · DICER1综合征，也称为胸膜肺母细胞瘤家族性肿瘤易感综合征，是1种罕见的由DICER1基因突变导致机体易患各种良恶性肿瘤的常染色体显性遗传性疾病。 该病于1996年首次在临床发现并得以命名，并于2009年在家系分析中明确该疾病与DICER1 基因遗传突变有关[1]。 目前，DICER1综合征在全球的发病率尚不明确。 而DICER1综合征的临床表现呈多样化，原因与患者可出现1种或多种相关肿瘤，且同一家系患者所出现的肿瘤也各不相同有关[2]。 目前，国内 …

DICER1处于miRNA介导的沉默和其他的RNA干扰现象的核心位置，已经深深嵌入了癌症基因网络中。 本文将从DICER1的结构和功能、与DICER1突变相关肿瘤、DICER1的检测方法，以及DICER1突变个体的未来管理等方面进行综述，以增加对DICER1相关肿瘤的认识。