Isolated multinodular goiter and follicular adenoma associated with a novel germline DICER1 variant: A benign presentation.

doi:10.1016/j.cancergen.2025.07.013

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Article

Isolated multinodular goiter and follicular adenoma associated with a novel germline DICER1 variant: A benign presentation.

Cancer genetics - 1 Sept 2025

Chang Joshua, Rabenn Rachel, Parikh Aditi, Wu Chen-Han Wilfred

Abstract excerpt

DICER1 syndrome is a tumor-predisposition disorder caused by a germline pathogenic variant in DICER1. Pathogenic variants of DICER1 are the monogenic cause of various tumors including pleuropulmonary blastoma (PPB), ovarian sex cord-stromal tumors, and multinodular goiters. We present a family with a novel DICER1 pathogenic variant c.5528-2del who presents with development of isolated thyroid goiters/follicular...

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Topics

Humans
Ribonuclease III
DEAD-box RNA Helicases
Female
Goiter, Nodular
Germ-Line Mutation
Adult

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Adolescent

Adenoma

Pedigree

Thyroid Neoplasms

Male

Child

Genetic Predisposition to Disease

Source

Open in PubMed

Identifiers

PMID: 40737716
DOI: 10.1016/j.cancergen.2025.07.013

Genes

DICER1

Provenance

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