Clinical presentations and RET protooncogene mutations in seven multiple endocrine neoplasia type 2 kindreds.

Abstract excerpt

BACKGROUND: Multiple endocrine neoplasia type 2 (MEN 2) is a group of related autosomal dominant cancer syndromes caused by mutations in the RET protooncogene. A subset of familial Hirschsprung's disease, aganglionic megacolon, is also caused by mutations in this gene. METHODS: The authors performed mutation analysis of exons 10, 11, 13, and 16 of the RET gene is six established MTN 2 kindreds and in six patients...

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