Multiple endocrine neoplasia type 2 (MEN2) is an inherited, autosomal-dominant 
disorder caused by deleterious mutations within the RET protooncogene. MEN2 RET 
mutations are mainly heterozygous, missense sequence changes found in RET exons 
10, 11, and 13-16. Our group has developed the publicly available, searchable 
MEN2 RET database to aid in genotype/phenotype correlations, using Human Genome 
Variation Society recommendations for sequence variation nomenclature and 
database content. The MEN2 RET database catalogs all RET sequence variation 
relevant to the MEN2 syndromes, with associated clinical information. Each 
database entry lists a RET sequence variation's location within the RET gene, 
genotype, pathogenicity classification, MEN2 phenotype, first literature 
reference, and comments (which may contain information on other clinical 
features, complex genotypes, and additional literature references). The MEN2 
phenotype definitions were derived from the International RET Mutation 
Consortium guidelines for classification of MEN2 disease phenotypes. Although 
nearly all of the 132 RET sequence variation entries initially cataloged in the 
database were from literature reports, novel sequence variation and updated 
phenotypic information for any existing database entry can be submitted 
electronically on the database website. The database website also contains links 
to selected MEN2 literature reviews, gene and protein information, and RET 
reference sequences. The MEN2 RET database 
(www.arup.utah.edu/database/MEN2/MEN2_welcome.php) will serve as a repository 
for MEN2-associated RET sequence variation and reference for RET genotype/MEN2 
phenotype correlations.