DICER1 Syndrome: A New Cancer Syndrome
| Autor: | Dominik Schneider, Peter Vorwerk, C. P. Kratz, Norbert Graf, R. E. Schultze-Florey, E. Koscielniak |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
Ribonuclease III
Pathology medicine.medical_specialty Lung Neoplasms Pleuropulmonary blastoma Biology DEAD-box RNA Helicases Cancer syndrome Germline mutation Neoplastic Syndromes Hereditary medicine Humans Registries Child Germ-Line Mutation DICER1 Syndrome Chromosomes Human Pair 14 Genetic Carrier Screening Cystic nephroma Cancer medicine.disease MicroRNAs Pediatrics Perinatology and Child Health Cancer research Medulloepithelioma Pulmonary Blastoma Natural history study |
| Zdroj: | Klinische Pädiatrie. 225:177-178 |
| ISSN: | 1439-3824 0300-8630 |
| DOI: | 10.1055/s-0033-1337976 |
| Popis: | Recently, germline mutations of DICER1 have been identified in patients with rare neoplasms suggesting the existence of a newly discovered cancer prone syndrome. Initially, DICER1 mutations were identified in patients with familial pleuropulmonary blastoma. Subsequently, additional manifestations of the syndrome have been identified including cystic nephroma, medulloepithelioma, Sertoli-Leydig cell tumor and others. The DICER1 gene encodes an enzyme that is involved in the biogenesis of microRNAs. The entire tumor spectrum and the respective tumor risks are unknown. We are in the process of launching a natural history study aimed at identifying more information on this new cancer syndrome. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|