RET

About RET

RET on chromosome 10q11.21 encodes a receptor tyrosine kinase that is essential for the development of the enteric nervous system and the kidneys and for the function of neural crest derived cells. Activating germline variants cause multiple endocrine neoplasia type 2, an inherited syndrome of medullary thyroid carcinoma, pheochromocytoma, and, in type 2A, parathyroid overactivity. Because the link between specific RET variants and cancer risk is well established, genetic testing in affected families is used to guide decisions about preventive thyroid removal. Loss of function variants in the same gene are the most common known genetic cause of Hirschsprung disease, in which nerve cells are missing from part of the bowel. Somatic RET fusions occur in some papillary thyroid and non small cell lung cancers, and selective RET inhibitors have been approved for these tumors.