Article
Deep Sequencing Reveals Spatially Distributed Distinct Hot Spot Mutations in DICER1-Related Multinodular Goiter.
The Journal of clinical endocrinology and metabolism - 1 Oct 2016
de Kock Leanne, Bah Ismaël, Revil Timothée, Bérubé Pierre, Wu Mona K, Sabbaghian Nelly, Priest John R, Ragoussis Jiannis, Foulkes William D
Abstract excerpt
CONTEXT: Nontoxic multinodular goiter (MNG) occurs frequently, but its genetic etiology is not well established. Familial MNG and MNG occurring with ovarian Sertoli-Leydig cell tumor are associated with germline DICER1 mutations. We recently identified second somatic DICER1 ribonuclease (RNase) IIIb mutations in two MNGs. OBJECTIVE: The objective of the study was to investigate the occurrence of somatic DICER1...
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