Article
RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center.
The Journal of clinical endocrinology and metabolism - 1 Dec 2007
Elisei Rossella, Romei Cristina, Cosci Barbara, Agate Laura, Bottici Valeria, Molinaro Eleonora, Sculli Mariangela, Miccoli Paolo, Basolo Fulvio, Grasso Lucia, Pacini Furio, Pinchera Aldo
Abstract excerpt
BACKGROUND: Germline RET gene mutations are causative of multiple endocrine neoplasia (MEN) 2 and may be identified by genetic screening. Three different syndromes are distinguished: MEN 2A, when medullary thyroid carcinoma (MTC) is associated with pheochromocytoma and/or parathyroid adenomas; MEN 2B, when accompanied by a marfanoid habitus and/or pheochromocytoma; and familial medullary thyroid carcinoma (FMTC),...
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