MEN2 is an inherited, autosomal dominant disorder consisting of three syndromes: MEN2A, MEN2B, and Familial Medullary Thyroid Carcinoma (FMTC). These syndromes result in a high lifetime risk of developing medullary thyroid carcinoma, due to mutations within the RET proto-oncogene.
The aim of the MEN2 RET database is to record all RET sequence changes relevant to the MEN2 syndromes, as well as any associated clinical information and pertinent literature references. This database will serve as a repository for MEN2-associated RET sequence variation and a reference for RET genotype/MEN2 phenotype correlations.
RET genotypes were generated using the Human Genome Variation Society sequence variation nomenclature and reference sequences NC_000010.9 and NM_020630.4. The MEN2 phenotype definitions used in the database were derived from the International RET Mutation Consortium guidelines for classification of MEN2 disease phenotypes.
ARUP Laboratories offers the following testing:
- RET exons 10, 11, and 13-16 (test 0051390)
- Single exon sequencing for a previously identified familial RET mutation (upon request).
MEN2 research study participation is also available at ARUP Laboratores, to help characterize novel or rare RET sequence changes associated with MEN2.
The RET database currently has 159 total entries.
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