Article
Phenotypic expression of a family with multiple endocrine neoplasia type 2A due to a RET mutation at codon 618.
The British journal of surgery - 1 Jun 2004
Lindskog S, Nilsson O, Jansson S, Nilsson B, Illerskog A-C, Ysander L, Ahlman H, Tisell L-E
Abstract excerpt
BACKGROUND: Multiple endocrine neoplasia type 2A (MEN2A) is caused by missense mutations in the RET proto-oncogene on chromosome 10. This paper reports the phenotypic expression of a family with MEN2A, in which serine substitutes for cysteine at codon 618 in exon 10 of the RET gene. It was first claimed that medullary thyroid cancer (MTC) with this rare mutation led to mild disease; this has recently been updated...
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