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


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    Other Members of the International RET Mutation Consortium: G. Lenoir, Head, Laboratoire de Génétique, Hôpital Édouard Hérriot, and International Agency for Research on Cancer, Lyon, France; M. Nordenskjold, Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden; J. K. Ploos van Amstel and R. M. Landsvater, The Clinical Genetics Centre Utrecht, Departments of Internal Medicine and Pathology, University Hospital, Utrecht, The Netherlands; G. J. Cote, University of Texas, M. D. Anderson Cancer Center, Houston, TX, USA, I. Nishisho and K. Akagi, Osaka University Medical School, Department of Medical Genetics, Osaka, Japan; F. Xue, Dartmouth-Hitchcock Medical Center, Department of Pathology, Lebanon, NH, USA; B. Niederle, University Vienne Medical School, Department of Surgery, Vienna, Austria; L. Gaboury, L. Villeneuve and L. Blanchard, Centre de Recherche Hôtel-Dieu de Montréal, Department of Endocrinology and Medicine, Montréal, Québec, Canada: and H. Gharib, Mayo Clinic, Division of Endocrinology, Rochester, MN, USA.

Department of Paediatrics, 20 Barrie Street, Queen's University, Kingston, Ontario, Canada K7L 3N6


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).