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

TR Frio, A Bahubeshi, C Kanellopoulou, N Hamel… - Jama, 2011 - jamanetwork.com
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 …