A rare missense variant in RET exon 8 in a Portuguese family with atypical multiple endocrine neoplasia type 2A

Ana Filipa Martins, João Martin Martins, Sónia do Vale, Teresa Dias, Catarina Silveira, Inês Rodrigues da Silva, Maria Carmo-Fonseca

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BACKGROUND AND OBJECTIVE: Multiple Endocrine Neoplasia type 2 (MEN2) is a rare genetic disorder characterized by medullary thyroid carcinoma (MTC), pheochromocytoma and primary hyperparathyroidism. MEN2 is an autosomal dominant syndrome caused by mutations in the RET proto-oncogene …