Gene Name: DICER1
PMCID: PMC5443331
PMID: 28323992
HGNCID: not found
Inheritance Pattern: autosomal dominant
Disease Entity: thyroid cancer and familial multinodular doiter
Mutation: germline loss-of-function mutation
Zygosity: not provided
Variant: c.1870C>T; p.Arg624a, c.1870C>T; p.Arg624a, c.1870C>T; p.Arg624a, c.1870C>T; p.Arg624a, c.3726C>A; p.Tyr1242a, c.3675C>G; p.Tyr1225a, c.3675C>G; p.Tyr1225a
Family Information: 145 individuals with a DICER1 germline mutation and 135 controls from 48 families
Case: family members used; both males and females used and no significant differences seen among sex; ages range from 20-40 with carriers being significantly younger than controls; no significant differences seen among ethnicity but participants located from the US, UK, and Great Britain
CasePresentingHPOs: thyroid cancer or MNG diagnosis common to those with a DICER! mutation but with no chemotherapy or radiation treatment yet
CasePreviousTesting: tested levels of thyroid-stimulating hormone, thyroxine, thyroxine-binding globulin, and serum albumin; thyroid palpation; thyroid ultrasound; Sanger or next-generation sequencing assays
gnomAD: n/a
Mutation Type: missense