What is it about?
We review the presentation of patients with a RET D631Y mutation and compare how these patients appear to differ from the more common RET MEN2a mutations in particular a later onset of medullary thyroid cancer but phaeochromocytoma appearing more common.
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Why is it important?
As a clinician dealing with patients who carry a rare variant such as the D631Y RET mutation it can be difficult to advise on the risk and we are often influenced by the risk associated with the more common genotypes. Increasing our knowledge of these rare mutations is important to help guide patients
Read the Original
This page is a summary of: Patients with RET D631Y Mutations Most Commonly Present with Pheochromocytoma and not Medullary Thyroid Carcinoma, Hormone and Metabolic Research, January 2012, Thieme Publishing Group,
DOI: 10.1055/s-0031-1295497.
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