Multiple Endocrine Neoplasia type 2 (MEN2) and RET  Genetics Home Reference

Initial release: June 2008
Last update: April 2022

A significant database revision occurred in April 2022 (manuscript submitted).

Updates were made to the RET variant Classification methods and the MEN2 Phenotype descriptions.

MEN2 is an autosomal dominant disorder caused by RET gene variation. MEN2 results in a high lifetime risk of developing medullary thyroid carcinoma, and consists of two main syndromes: MEN2A and MEN2B.

The aim of the MEN2 RET database is to record all RET sequence variations relevant to MEN2, as well as associated clinical information and pertinent literature references. This database serves 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 nomenclature and reference sequences GRCh37 and NM_020975.6. For RET variant classification, the 2015 ACMG/AMP variant classification guidelines were modified for specificity to MEN2 syndromes and RET variants using ClinGen sequence variant interpretation working group recommendations and ClinGen expert panel manuscripts. The MEN2 phenotypes were derived from American Thyroid Association manuscripts and other MEN2 RET literature.

Database Information

The RET database currently has 171 total entries.



Citations

When citing in publications please use:

Margraf RL, Crockett DK, Krautscheid P, Seamons R, Calderon FR, Wittwer CT, Mao R. The Multiple Endocrine Neoplasia type 2 RET proto-oncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations. Hum Mutat. 2009 Apr;30(4):548-56.

Database URL:

http://arup.utah.edu/database/MEN2/MEN2_welcome.php