Article
Occurrence of the Cys611Tyr mutation and a novel Arg886Trp substitution in the RET proto-oncogene in multiple endocrine neoplasia type 2 families and sporadic medullary thyroid carcinoma cases originating from the central region of Portugal.
Clinical endocrinology - 1 Jun 2006
Prazeres Hugo João, Rodrigues Fernando, Figueiredo Paulo, Naidenov Plamen, Soares Paula, Bugalho Maria João, Lacerda Manuela, Campos Beatriz, Martins Teresa C
Abstract excerpt
OBJECTIVE: Medullary thyroid carcinoma (MTC) occurs both sporadically and in the context of autosomal dominantly inherited multiple endocrine neoplasia type 2 (MEN2) syndromes: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC), which are caused by activating germline mutations in the RET proto-oncogene. The aim of this study was to characterize the RET mutational spectrum in MEN2 families and...
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