Variant C.113 C>T (P.SER 38PHE) of uncertain significance associated with typical MEN1

Abstract

Multiple endocrine neoplasia is an inherited predisposition to parathyroid, endocrine pancreas, pituitary, adrenal and neuroendocrine tumors. It segregates as an autosomal dominant disease with high penetrance and is related to mutations in the MEN1 gene. This condition has clinical variability as many glands and organs can be involved, and is important to clarify the relation between specific mutations and specific phenotypes. There are some pathogenic variants of the gen that have been described. Some are considered of uncertain significance and others have the category of probably pathogenic. There is not absolutely correlation between gene variants and phenotype. This is a case of MEN 1 with the variant c.113 C>T (p.Ser 38Phe), reported as of uncertain significance. The patient present with phenotype of MEN1 and multiple pancreatic lipomas. The same mutation was identified in one of her sons.