Open Access<emph type="ital">DICER1</emph> Mutations in Familial Multinodular Goiter With and Without Ovarian Sertoli-Leydig Cell Tumors
Author(s) -
Thomas Rio Frio,
Amin Bahubeshi,
Chryssa Kanellopoulou,
Nancy Hamel,
Marek Niedziela,
Nelly Sabbaghian,
Carly Pouchet,
Lucy Gilbert,
Paul O'Brien,
Kim Serfas,
Peter Broderick,
Richard S. Houlston,
Fabienne Lesueur,
Elena Bonora,
Stefan A. Muljo,
R. Neil Schimke,
Dorothée BouronDal Soglio,
Jocelyne Arseneau,
Kris Ann P. Schultz,
John R. Priest,
Văn Hùng Nguyễn,
H. Rubén Harach,
David M. Livingston,
William D. Foulkes,
Marc Tischkowitz
Publication year - 2011
Publication title -
jama
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.688
H-Index - 680
eISSN - 1538-3598
pISSN - 0098-7484
DOI - 10.1001/jama.2010.1910
Subject(s) - loss of heterozygosity , germline , missense mutation , germline mutation , population , medicine , proband , cancer research , genetics , mutation , microbiology and biotechnology , gene , biology , allele , environmental health
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.
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