DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors.

ABSTRACT:

Context

Nontoxic multinodular goiter (MNG) is frequently observed in the general population, but little is known about the underlying genetic susceptibility to this disease. Familial cases of MNG have been reported, and published reports describe 5 families that also contain at least 1 individual with a Sertoli-Leydig cell tumor of the ovary (SLCT). Germline mutations in DICER1, a gene that codes for an RNase III endoribonuclease, have been identified in families affected by pleuropulmonary blastoma (PPB), some of whom include cases of MNG and gonadal tumors such as SLCTs.

Objective

To determine whether familial MNG with or without SLCT in the absence of PPB was associated with mutations in DICER1.

Design, setting, and patients

From September 2009 to September 2010, w

SUBMITTER: Rio Frio T 

PROVIDER: S-EPMC3406486 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature