GeneName:DICER1
PMID (PubMed ID):
PMCID: PMC6418698
PMID: 30672147
HGNCID: NOT LISTED<br />
Inheritance Pattern: Autosomal Dominant
Disease Entity: Cancer; benign and malignant tumors including pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumors, multinodular goiter, Thryoid cancer, rhabdomyosarcoma, and pineoblastoma.
Mutation: Somatic missense variation
Mutation type: missense
Zygosity: None stated
Variant: unregistered….
Family Information: Characterize germline variants in familial early-onset clorectal cancer patients; The observation of germline DICER1 variation with uterine corpus endometrial carcinoma merits additional investigation.
CasePresentingHPOs: uterine and rectal cancers in germline mutation