- Apr 2022
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
- Zygosity: Heterosygosity
- pituitary blastoma
- cystic nephroma
- Inheritance Pattern: Autosomal Dominant
- multinodular goiter
- Mutation: Nonsense
- differentiated thyroid carcinoma
- Wilms’ tumor
- ciliary body medulloepithelioma
- nasal chondromesenchymal hamartoma
- familial pleuropulmonary blastoma
- Gene: DICER1
- ovarian Sertoli-Leydig cell tumor
- cervix embryonal rhabdomyosarcoma
- Mutation: Frameshift
DICER1 syndrome is a rare genetic disorder that predisposes individuals to multiple cancer types
GeneName: DICER1 PMID (PubMed ID): 29762508 HGNCID: Unavailable Inheritance Pattern: Autosomal Dominant Disease Entity: cancer, rare genetic disorder, pleuroplumonary blastomas, cystic nephroma, rhabdomyosarcoma, multinodular goiter, thyroid cancer, overian Sertoli-Leydig cell tumors, and other meoplasias Mutations: Germline mutations or Somatic mutations Zygosity: Heterozygosity Variant: unregistered Family Information: Cystic nephromas has been reported in approximately 12% of children with pleuripulmonary blastomas or those with a family member with cystic nephroma. Patient with two DICER1 mutations and several of his family members shared these mutations. All members developed a least one type of tumor with differing origins. The patient was an 11-year old boy with a rare Hodgkin lymphoma with DICER1 in 2016. (c.5299delC and c.4616C>T).
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