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