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.

GeneName: DICER1 syndrome (pleuropulmonary blastoma familial tumor susceptibility syndrome), PMID (PubMed ID): 29762508, HGNCID: 17098, Inheritance pattern: autosomal-dominant disease, Disease entity: Plueropulomary Blastoma, Mutation: Somatic, Zygosity: heterozygous, Variant: multiple variants, Family information: NA, Case: young children, CasePresentingHPO: N/A, CasePreviousTesting: N/A, Gnomade #: N/A , Mutation type: deletion

GeneName: DICER1 PMID: 29762508 HGNCID: Can't find Inheritance: Autosomal Dominant Disease Entities: Endocrine and Reproductive Tumors Mutation: Somatic and germline Zygosity: Heterozygous Mutant: Can't find Family: Can't find

GeneName: DICER1 PMID (PubMed ID): 29762508 HGNCID: Unavailable Inheritance Pattern: Autosomal Dominant Disease Entity: cancer, rare genetic disorder, pleuroplumonary blastomas, cystic nephroma, rhabdomyosarcoma, multinodular goiter, thyroid cancer, overian Sertoli-Leydig cell tumors, and other meoplasias Mutations: Germline mutations or Somatic mutations Zygosity: Heterozygosity Variant: unregistered Family Information: Cystic nephromas has been reported in approximately 12% of children with pleuripulmonary blastomas or those with a family member with cystic nephroma. Patient with two DICER1 mutations and several of his family members shared these mutations. All members developed a least one type of tumor with differing origins. The patient was an 11-year old boy with a rare Hodgkin lymphoma with DICER1 in 2016. (c.5299delC and c.4616C>T).

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