Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918

The Journal of Clinical Endocrinology and Metabolism
Fred H MenkoCornelis J M Lips

Abstract

A kindred was diagnosed with atypical MEN type 2B characterized by medullary thyroid cancer and mucosal neurilemmomas in multiple family members. Mutation analysis revealed a double RET germline mutation, Val804Met and Ser904Cys, in affected individuals. The clinical phenotype, the functional effect of the mutations, and the clinical implications of our findings are discussed.

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