Genotype-phenotype correlation in multiple endocrine neoplasia type 2: Report of the International RET Mutation Consortium

L. M. Mulligan, D. J. Marsh, B. G. Robinson, I. Schuffenecker, J. Zedenius, C. J.M. Lips, R. F. Gagel, S. I. Takai, W. W. Noll, M. Fink, F. Raue, A. Lacroix, S. N. Thibodeau, A. Frilling, B. A.J. Ponder, C. Eng

Research output: Contribution to journalArticle

236 Scopus citations

Abstract

The International RET Mutation Consortium was first convened as part of the Fifth International Workshop on Multiple Endocrine Neoplasia, Stockholm, Sweden, in an attempt to analyse the relationship of RET mutation and disease phenotype in the autosomal dominantly inherited multiple endocrine neoplasia type 2 (MEN 2) syndromes. Out of 361 families studied, 41% had MEN 2A, 17.7% MEN 2B, 6.4% FMTC and the remaining subjects were unclassified. RET mutations were detected in 87.3% of families overall. Over 93% of MEN 2B families had the RET 918 ATG → ACG mutation, while the most frequent mutation detected in MEN 2A families was cysteine codon 634 (87% of all mutations).

Original languageEnglish (US)
Pages (from-to)343-346
Number of pages4
JournalJournal of Internal Medicine
Volume238
Issue number4
DOIs
StatePublished - Jan 1 1995

Keywords

  • Inherited cancer syndrome
  • MEN 2
  • RET

ASJC Scopus subject areas

  • Internal Medicine

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