1 Matching Annotations
- May 2022
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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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.
- GeneName: DICER1
- PMID (PubMed ID): 31952842
- HGNCID: N/A
- Inheritance Pattern: Autosomal dominant
- Disease Entity: Ovarian Sertoli-Leydig cell tumors or gynandroblastoma; cervical embryonal rhabdomyosarcoma; pleuropulmonary blastomas; ovarian tumors generally presented with virilization and amenorrhea during adolescence; metachronous ovarian tumors; thyroid disease; increases risk of thyroid cancer during pregnancy
- Mutation: Germline
- Zygosity: Heterozygous
- Variant: No variant
- Family Information: The pleuropulmonary blastoma locus was mapped to chromosome 14q using linkage analysis in families with multiple cases of pleuropulmonary blastoma, resulting in the identification of heterozygous germline variants in DICER. Sixty-four DICER1-carrier female patients from 32 predominantly non-Hispanic white families were confirmed to have a heterozygous germline DICER1 pathogenic variant and ranged in age from 2–72 years (median: 31 years).
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