- Apr 2022
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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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
- Inheritance Pattern: Autosomal Dominant
- sarcomas
- PPB
- Mutation: Frameshift
- ciliary body medulloepithelioma
- SLCT
- pituitary blastoma
- pineoblastoma
- Zygosity: Heterosygosity
- PMID:33552988
- differentiated thyroid carcinoma
- ovarian Sertoli-Leydig cell tumor
- Wilms’ tumor
- familial pleuropulmonary blastoma
- Gene: DICER1
- cervix embryonal rhabdomyosarcoma
- Mutation: Nonsense
- cystic nephroma
- multinodular goiter
- nasal chondromesenchymal hamartoma
Annotators
URL
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Individuals who harbor germline pathogenic variants in DICER1 (MIM #601200) have an increased risk for a variety of benign and malignant tumors.
GENENAME: DICER1 PMID: 31952842 HGNCID: NONE DISEASE ENTITY: THYROID DISEASE AND OVARIAN TUMORS ZYGOSITY: HETEROZYGOUS VARIANT: NONE CASE PRESENTING HPOS: cervical embryonal rhabdomyosarcoma CASE PREVIOUS TESTING: GYNECOLOGIC HISTORY MUTATION: DELETION
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Of 64 females aged 2–72 years, fifteen underwent treatment for pleuropulmonary blastoma as children and three were treated for cervical embryonal rhabdomyosarcoma.
CASE: FEMALES AGED 2-72 YEARS
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