DICER1 Syndrome: DICER1 Mutations in Rare Cancers
| Autor: | Julia Thom Oxford, Cheryl L. Jorcyk, Jake Robertson |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Cancer Research DICER1 syndrome Review rare genetic disorder 03 medical and health sciences 0302 clinical medicine Germline mutation microRNA Gene expression medicine cancer Gene miRNA DICER1 Syndrome Genetics biology Genetic disorder medicine.disease 3. Good health 030104 developmental biology Oncology 030220 oncology & carcinogenesis biology.protein DICER1 Gene DICER1 germline mutations Dicer |
| Zdroj: | Cancers |
| ISSN: | 2072-6694 |
| DOI: | 10.3390/cancers10050143 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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