Searchable abstracts of presentations at key conferences in endocrinology

ea0040p14 | (1) | ESEBEC2016

A novel germline mutation of the MEN 1 gene associated with multiple endocrine neoplasia type 1 (MEN1 syndrome) followed over three generations of a family

Anselmo Joao , Sousa Isabel , Cavaco Branca , Cesar Valeriano Leite e Rui

Background: Germline heterozygous mutations in the MEN1 gene located on chromosome 11q13, predisposes to the development of tumors in multiple endocrine tissues. The MEN1 gene encodes a protein of 610 amino acid residues, known as menin which is involved in genome stabilization as well as in several steps of cellular division, conferring tumor suppression activity in MEN1-associated target tissues. The three main endocrine tissues affected by tumors in MEN1 are parathyroid (95...