DICER1
| is a | gene |
| is | mentioned by |
| Full name | dicer 1, ribonuclease type III |
| EntrezGene | 23405 |
| PheGenI | 23405 |
| VariationViewer | 23405 |
| ClinVar | DICER1 |
| GeneCards | DICER1 |
| dbSNP | 23405 |
| Diseases | DICER1 |
| SADR | 23405 |
| HugeNav | 23405 |
| wikipedia | DICER1 |
| DICER1 | |
| gopubmed | DICER1 |
| EVS | DICER1 |
| HEFalMp | DICER1 |
| MyGene2 | DICER1 |
| 23andMe | DICER1 |
| UniProt | Q9UPY3 |
| Ensembl | ENSG00000100697 |
| OMIM | 606241 |
| # SNPs | 113 |
Mutations in the DICER1 gene may lead to DICER1-related disorder, a rare familial tumor susceptibility syndrome that confers increased risk most commonly for:
- pleuropulmonary blastoma (PPB)
- ovarian sex cord-stromal tumors (Sertoli-Leydig cell tumor [SLCT], juvenile granulosa cell tumor [JGCT], and gynandroblastoma);
- cystic nephroma (CN)
- thyroid gland neoplasia (multinodular goiter [MNG], adenomas, or differentiated thyroid cancer).
Even more rarely observed tumors are ciliary body medulloepithelioma (CBME); botryoid-type embryonal rhabdomyosarcoma (ERMS) of the cervix or other sites; nasal chondromesenchymal hamartoma (NCMH); renal sarcoma; pituitary blastoma; and pineoblastoma. Novel phenotypes continue to be discovered. The majority of tumors in families with a DICER1 germline pathogenic variant occur in individuals younger than age 40 years. PPB, a neoplasm that arises during lung development or shortly after birth, typically presents in infants and children younger than age six years. Age of onset of ovarian sex cord-stromal tumors is not well defined. CN presents in children younger than age four years.Gene Reviews
DICER1-related disorders are inherited in an autosomal dominant manner, and more than 180 mutations are known. The ClinGen Actionability Working Group has a summary of recommended actions here.
