ARUP Online Scientific Resource

Multiple Endocrine Neoplasia type 2 (MEN2)

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 this database is to record all sequence variations within the RET proto-oncogene relevant to the MEN2 syndromes, as well as any associated clinical information and literature references. MEN2 mutations are mainly found in RET exons 10, 11, and 13-16.

Full sequence analysis covering the RET exons 10, 11, and 13-16 is offered as ARUP Test Code 0051390.
Targeted analysis for two mutations causative of MEN2B, is offered as ARUP Test Code 0051492.

The Human Genome Variation Society sequence variation nomenclature was used to generate the RET genotypes for the database.
The following reference sequences: genomic DNA NC_000010.9 (Genbank accession number) and mRNA NM_020630.4 were used.