hrp0092p3-186 | Multisystem Endocrine Disorders | ESPE2019

Variable Expressivity in Three Generation from a Colombian Family with Multiple Endocrine Neoplasia with Mutation c.482G>A (p.Gly161Asp) in the Gene MEN1 not Described in Colombia

Mejia de Beldjenna Liliana , Diaz Lorena , Vanegas Sara , Perafan Lina , Pachajoa Harry

Introduction: Multiple endocrine neoplasia type 1 is an autosomal illness dominant caused by mutations in the gene menina (MEN1) with high penetrance, characterized by neoplasia parathyroid glands, anterior pituitary, endocrine pancreas and duodenum. Although it has been associated with other types of cancer like breast cancer.Methods and materials: Clinical analysis, mutational and sequencing report Sanger from gene MEN...