This section is an adaptation of the paper: “DICER1: mutations, microRNAs and mechanisms”, published in Nature Reviews Cancer by Foulkes, Priest and Duchaine (PMID 25176334). For more information, please refer to the original article.
For an up to date list of papers published about the DICER1 gene and DICER1 syndrome, please click here.

DICER1: Structure and FunctionDICER1 Syndrome Tumor SpectrumManagement: Detection, Surveillance, Treatment
Molecular Functions
DICER1 Structure
Clinical Features Phenotypes
DICER1 Mutations – Germline and Somatic
Tumor Spectrum
DICER1 Phenotypes
Adapted and updated from : Choong CS, Priest JR, Foulkes WD., Exploring the endocrine manifestations of DICER1 mutations. Trends Mol Med. 2012 Sep;18(9):503-5. doi: 10.1016/j.molmed.2012.07.003. Epub 2012 Aug 3


Pleuropulmonary blastoma (PPB)
Cystic nephroma
Multinodular Goiter (MNG)
Ovarian sex cord-stromal tumor (OSCST)
Pituitary blastoma (PitB)
Pineoblastoma (PinB)
Embryonal Rhabdomyosarcomas (ERMS)
Ciliary body medulloepithelioma (CBME)
Nasal chondromesenchymal hamartoma (NCMH)
Anaplastic sarcoma of the kidney (ASK)
Other tumors
Downloadable Phenotypes Chart