Article
Identification of a novel point mutation in the RET gene (Ala883Thr), which is associated with medullary thyroid carcinoma phenotype only in homozygous condition.
The Journal of clinical endocrinology and metabolism - 1 Nov 2004
Elisei Rossella, Cosci Barbara, Romei Cristina, Agate Laura, Piampiani Pamela, Miccoli Paolo, Berti Piero, Basolo Fulvio, Ugolini Clara, Ciampi Raffaele, Nikiforov Yuri, Pinchera Aldo
Abstract excerpt
The RET protooncogene mutations responsible for multiple endocrine neoplasia type 2 are inherited as autosomic dominant traits. We describe here a novel germline homozygous mutation in exon 15 of the RET gene that determines an amino acid substitution (Ala->Thr) at codon 883. The index case was a 51-yr-old patient with an apparently sporadic form of medullary thyroid cancer (MTC). RET gene mutations screening was...
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