Prevalence of DICER1 variants in large multinodular goiter: thyroid function, clinical and imaging characteristics.

Lara Judith Cabral MirandaDébora L S DanilovicFelipe Augusto Brasileiro VanderleiMarcos Roberto TavaresNicolau Lima NetoRosalinda Yossie Asato de CamargoSuemi Marui

Published in: Archives of endocrinology and metabolism (2024)

We conclude that germline DICER1 variants can be found in 11% of large goiters but no second-hit somatic mutation was found. DICER1 is one driver to thyroid lesion and a second-hit event seems unnecessary in the MNG development.

Keyphrases

copy number
high resolution
risk factors
genome wide
dna repair
dna methylation
dna damage
mass spectrometry