- May 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
GeneName: DICER1 PMCID: PMC7859642 HGNCID: Unavailable Inheritance Pattern: Autosomal dominant. Disease Entity: Familial pleuropulmonary blastoma (PPB), cervix embryonal rhabdomyosarcoma, multinodular goiter, nasal chondromesenchymal hemartoma, Ciliary body medulloepithelioma, Sertoli-Leydig Cell Tumor (SLCT), differentiated thyroid carcinoma, pituitary blastoma, pineoblastoma, cystic nephroma, Wilm's tumor and sarcomas of different sites including, amongst others, the uterine cervix, kidney and brain. Mutation: Germline Zygosity: Heterozygose Variant: No ClinVarID present. Family Information: No family outline Case: No specified information of patients included. CasePresentingHPO's: n/a CasePrevious Testing: n/a gnomAD: n/a Mutation Type: nonsense, frameshift, or splice affected.
Tags
- Wilm's tumor
- Cervix embryonal rhabdomyosarcoma
- PMCID: PMC7859642
- Mutation: Germline
- Multinodular goiter
- Differentiated thyroid carcinoma
- Zygosity: Heterozygous
- Ciliary body medulloepitheliomma
- Familial pleuropulmonary blastoma (PPB)
- Mutation type: Frameshift
- Gene: DICER1
- Inheritance Pattern: Autosomal dominant
- Mutation type: Nonsense
- Nasal chondromesenchymal hemartoma
- Sertoli-Letdig Cell Tumor(SLCT)
Annotators
URL
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- 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
- cervix embryonal rhabdomyosarcoma
- Zygosity: Heterosygosity
- SLCT
- multinodular goiter
- ovarian Sertoli-Leydig cell tumor
- Gene: DICER1
- cystic nephroma
- pineoblastoma
- pituitary blastoma
- PPB
- Mutation: Frameshift
- Wilms’ tumor
- familial pleuropulmonary blastoma
- nasal chondromesenchymal hamartoma
- Mutation: Nonsense
- PMID:33552988
- differentiated thyroid carcinoma
- sarcomas
- Inheritance Pattern: Autosomal Dominant
- ciliary body medulloepithelioma
Annotators
URL
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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DICER1 Syndrome
GeneName: DICER1 PMID: 28323992 PMCID: PMC5443331 *No HGNCID found Inheritance pattern: autosomal-dominant Disease Entity: multinodular goiter and thyroid cancer Mutation: Germline Zygosity: not listed Variant: c.3726C>A; p.Tyr1242a, c.3675C>G; p.Tyr1225a Family Information: 145 individuals with DICER1 germline mutations from 48 family controls (135 individuals) that lacked the DICER1 mutation Case: male and female carriers as well as family members were studied. Ages: 20, 30, and 40 for both populations (DICER1 carriers were significantly younger than controls}. Population from Great Britain, UK, and USA (no significant difference between race, ethnicity, or sex found). CasePresentingHPOs: no previous therapeutic radiation or chemotherapy. Thyroid cancer or MNG diagnoses were likely reported with the DICER1 mutation CasePreviousTesting: Sequencing performed with Sanger or next-generation sequencing assays. DICER1 carriers underwent testing to obtain thyroid-stimulating hormone, thyroxine, thyroxine-binding globulin, and serum albumin levels as well as medical history and physical examinations (+thyroid palpation). Participants were also given thyroid US examinations. gnomAD: n/a Mutation Type: missense
Tags
- Mutationtype:missense
- InheritancePattern:autosomal-dominant
- Variant:c.3726C>A
- PMID:28323992
- Variant:c.3675C>G
- Zygosity:notlisted
- FamilyInformation:145individualswithDICER1germlinemutationsfrom48familycontrols(135 individuals)thatlackedtheDICER1mutation
- Case:age203040withnosignificantdifferencebetweenraceethnicityorsex
- Gene:DICER
- PMCID:PMC5443331
- CasePresentingHPOs:thyroidcancerorMNGdiagnosis
- Mutation:germline
- CasePreviousTesting:geneticsequencingbloodtestforthyroidhormonesandserumalbuminphysicalsthyroidUSexams
- DiseaseEntity: multinodular goiter and thyroid cance
Annotators
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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The DICER1 gene, located on chromosome 14, position q32.13, encodes the endoribonuclease Dicer protein of the ribonuclease III family
GeneName: Dicer1 PMID (PubMedID): 29782508 HGNCID= Unavailable Inheritance Pattern: Autosomal Dominant Disease Entity: cancer, multinodular goiter, pleuropulmonary blastoma, cystic nephroma, and ovarian Sertoli-Leydig Cell Tumor Mutation: germline or somatic Zygosity: causes loss of heterozygosity Variant: unregistered Family: those that have the mutation almost always pass it on.
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