M. Frohnauer, S. Bigos, M. L. Peacock and
Sep 1, 2000
British Journal of Surgery
Missense mutations in five exons of the RET proto‐oncogene have been found to cosegregate with the inherited cancer syndrome, multiple endocrine neoplasia type 2A (MEN2A). Sequence abnormalities involving c804 in exon 14 occur rarely and to date have been found in five kindreds. Initial reports linked the c804 mutation to a mild C‐cell disease phenotype with low penetrance and an indolent course, and questioned the appropriateness of aggressive strategies such as prophylactic thyroidectomy in early childhood. The purpose of this study is to report the clinical correlates of five additional MEN2A kindreds that harbour the c804 RET mutation, with the intention of clarifying therapeutic recommendations in asymptomatic carriers.