- May 2022
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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DICER1 syndrome is a rare genetic disorder that predisposes individuals to multiple cancer types.
GeneName: DICER1 PMID: 29762508 HGNCID: N/A Inheritance Pattern: Autosomal dominant Disease Entity: Cancer Mutation: Germline Zygosity: Heterozygosity Variant: Unregistered Family Information: 12% of children with pleuropulmonary blastomas have cystic nephromas Case: 11 year old patient with Hodgkin lymphoma with DICER1 mutation in 2016.
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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
- Mutation type: Frameshift
- Ciliary body medulloepitheliomma
- Sertoli-Letdig Cell Tumor(SLCT)
- Mutation type: Nonsense
- PMCID: PMC7859642
- Wilm's tumor
- Zygosity: Heterozygous
- Cervix embryonal rhabdomyosarcoma
- Nasal chondromesenchymal hemartoma
- Multinodular goiter
- Gene: DICER1
- Familial pleuropulmonary blastoma (PPB)
- Differentiated thyroid carcinoma
- Mutation: Germline
- Inheritance Pattern: Autosomal dominant
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 an autosomal-dominant, pleiotropic tumor-predisposition disorder
Gene Name:DICER1 PMID: 30715996 HGNCID: Not on document Inheritance Pattern: Autosomal Dominant Disease Entity: Pleiotropic Tumor-Predisposition Disorder Mutation: Pathogenic Germline Variants Zygosity: Not in document Variant: Not in document Family Information: An individual was found who had family members who were also affected by this mutation. Because of this, those family members were also chosen to participate in this study. Mutation Type: Missense Case: The study was done on more than one individual. Roughly more than half of the individuals were female
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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
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DICER1 syndrome is a cancer-predisposing disorder caused by pathogenic variants in the DICER1 gene
Gene: DICER1 PMCID: PMC7859642 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: Germline Zygosity: Heterozygosity most common Variant: ClinVarID not available Family Information: No mention of disease within family Case: No case specified GnomAD: N/A Mutation Type: Nonsense or Frameshift
Tags
- sarcomas
- PMID:33552988
- Nonsense
- NasalChondromesenchymalHamartoma
- PMCID: PMC7859642
- multinodular goiter
- Cancer
- HGNCID:Unavailable
- Inheritance Pattern: Autosomal Dominant
- Pediatric
- CancerPredisposition
- pituitary blastoma
- PMID: 33552988
- differentiated thyroid carcinoma
- Gene: DICER1
- cervix embryonal rhabdomyosarcoma
- cystic nephroma
- ovarian Sertoli-Leydig cell tumor
- AutosomalDominant
- familial pleuropulmonary blastoma
- Frameshift
- nasal chondromesenchymal hamartoma
- SLCT
- Wilms’ tumor
- ciliary body medulloepithelioma
- CysticNephroma
- Germline
- pineoblastoma
- PPB
- Mutation: Frameshift
- Heterozygosity
- FamilialPleuropulmonaryBlastoma
- Sarcomas
- Zygosity: Heterosygosity
- Mutation: Nonsense
Annotators
URL
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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DICER1 syndrome is a rare genetic disorder that predisposes individuals to multiple cancer types.
GeneName = DICER1 PMID = 29762508 HGNCID = Can't find Inheritance pattern = Autosomal dominant Disease entity = cancer, multinodular goiter, pleuropulmonary blastoma, cystic nephroma, ovarian Sertoli-Leydig cell tumor Mutation = germline OR somatic Zygosity = causes loss of heterozygosity Variant = unregistered Family = those with the mutation almost always passed it on
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