Mulligan L M, Marsh D J, Robinson B G, Schuffenecker I, Zedenius J, Lips C J, Gagel R F, Takai S I, Noll W W, Fink M
Department of Paediatrics, Queen's University, Kingston, Ontario, Canada.
J Intern Med. 1995 Oct;238(4):343-6. doi: 10.1111/j.1365-2796.1995.tb01208.x.
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).
国际RET突变联盟最初是作为第五届多发性内分泌腺瘤国际研讨会的一部分而召集的，该研讨会在瑞典斯德哥尔摩举行，旨在分析常染色体显性遗传的2型多发性内分泌腺瘤（MEN 2）综合征中RET突变与疾病表型之间的关系。在研究的361个家庭中，41%患有MEN 2A，17.7%患有MEN 2B，6.4%患有家族性甲状腺髓样癌（FMTC），其余受试者未分类。总体而言，在87.3%的家庭中检测到RET突变。超过93%的MEN 2B家庭存在RET 918 ATG→ACG突变，而在MEN 2A家庭中检测到的最常见突变是半胱氨酸密码子634（占所有突变的87%）。
