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Abstract

Multiple endocrine neoplasia (MEN) is a rare genetic condition that predisposes patients to developing endocrine tumors. The condition is autosomal dominant and is associated with several germline RET mutations including Cys618Ser. Virtually all patients with the untreated 2A variant of this condition (MEN2A) will develop medullary thyroid carcinoma (MTC), a malignancy with an estimated 5-year survival of 68-80%. With the consequences of malignancy in untreated persons at a young age, further work to construct a more extensive pedigree would help to identify individuals who could benefit from genetic testing and subsequent prophylactic treatment.

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