Presence of the RET Cys634Tyr mutation and Gly691Ser functional polymorphism in Iranian families with multiple endocrine neoplasia type 2A

Maryam Nasiri Aghdam, Mohammad Reza Abbaszadegan, Alireza Tafazoli, Mohammad Aslzare, Zohreh Mosavi

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PURPOSE: Multiple Endocrine Neoplasia type 2A (MEN2A) is a complex autosomal dominant inherited syndrome characterized by medullary thyroid carcinoma (MTC), pheochromocytoma and primary parathyroid hyperplasia. In patients with only one or two clinical features, identification of a germ line RET (REarranged in Transfection) mutation is required to make the diagnosis and initiate genetic counseling. METHODS: We analyzed blood DNA from three Iranian families with three generations …