Specifying the molecular pattern of sporadic parathyroid tumorigenesis-The Y282D variant of the GCM2 gene.

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Specifying the molecular pattern of sporadic parathyroid tumorigenesis-The Y282D variant of the GCM2 gene.

Biomed Pharmacother. 2017 Aug;92:843-848

Authors: Marchiori E, Pelizzo MR, Herten M, Townsend DM, Rubello D, Boschin IM

Abstract
OBJECTIVE: Sporadic carcinoma of the parathyroid glands is a rare malignant neoplasia. The GCM2 gene encodes a transcription factor that is crucial to embryonic parathyroid development. The Y282D variant of GCM2 exhibits increased transcriptional activity, and the presence of this variant is significantly associated with a higher prevalence of primitive hyperparathyroidism. The present study investigated the prevalence of the Y282D variant of the GCM2 gene and its association with clinical parameters in patients with a definitive histological diagnosis of sporadic parathyroid carcinoma (SPC) or atypical adenoma (AA).

PMID: 28609842 [PubMed - indexed for MEDLINE]

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