Article
Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2.
Frontiers in endocrinology - 1 Jan 2021
Hansen Anna Reimer, Borgwardt Line, Rasmussen Åse Krogh, Godballe Christian, Poulsen Morten Møller, Vieira Filipe G, Mathiesen Jes Sloth, Rossing Maria
Abstract excerpt
Activating variants in the receptor tyrosine kinase REarranged during Transfection (RET) cause multiple endocrine neoplasia type 2 (MEN 2), an autosomal dominantly inherited cancer-susceptibility syndrome. The variant c.166C>A, p.Leu56Met in RET was recently reported in two patients with medullary thyroid cancer (MTC). The presence of a pheochromocytoma in one of the patients, suggested a possible pathogenic role...
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