- Apr 2022
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
DICER1 syndrome is a rare genetic condition predisposing to hereditary cancer and caused by variants in the DICER1 gene.
Gene Name: DICER1 PMID:33552988 HGNCID: Unavailable Inheritance Pattern:Autosomal Dominant Disease Entity: familial pleuropulmonary blastoma (PPB),cystic nephroma, ovarian Sertoli-Leydig cell tumor (SLCT), multinodular goiter, cervix embryonal rhabdomyosarcoma, Wilms’ tumor, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma, differentiated thyroid carcinoma, pituitary blastoma, pineoblastoma, and sarcomas of different sites. Mutation: Nonsense, Frameshift<br /> Zygosity: Heterosygosity Variant:No ClinVar ID present Family Information:no diseases mentioned in family Case: no specified case in this article gnomAD: n/a Mutation type: Nonsense. frameshift
Tags
- pituitary blastoma
- PPB
- SLCT
- pineoblastoma
- Mutation: Nonsense
- sarcomas
- ovarian Sertoli-Leydig cell tumor
- multinodular goiter
- Zygosity: Heterosygosity
- Inheritance Pattern: Autosomal Dominant
- familial pleuropulmonary blastoma
- Wilms’ tumor
- cervix embryonal rhabdomyosarcoma
- nasal chondromesenchymal hamartoma
- Mutation: Frameshift
- Gene: DICER1
- ciliary body medulloepithelioma
- differentiated thyroid carcinoma
- PMID:33552988
- cystic nephroma
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Germline pathogenic variation in DICER1 underlies a tumor-predisposition disorder with increased risk for cervical embryonal rhabdomyosarcoma and ovarian sex-cord stromal tumors, particularly Sertoli-Leydig cell tumors.
MUTATION: GERMLINE
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Pathogenic germline variants in DICER1 underlie an autosomal dominant, pleiotropic tumor-predisposition disorder.
gene name: DICER1 PMID: 33570641 HGNCID: none inheritance pattern: autosomal dominant disease entity: benign and malignant tumors mutation: germline zygosity: heterozygous variant: none family information: none
-