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ea0035p515 | Endocrine tumours and neoplasia | ECE2014

Our experience in the evaluation criteria used for the genetic study of patients suspected of being affected by multiple endocrine neoplasia type 1 and mutational spectrum

Oriola Josep , Sitges Antoni , Goday Albert , Martinez S , Villabona Carles , Gomez Jose Manuel , Loidi Lourdes , Salinas Isabel , Puig-Domingo Manel , Gonzalez-Romero E , Garcia-Arnes J A , Lecube Albert , Mesa Jordi , Simo Rafael , Rosell J , Sanchez-Garcia F , Recas Immaculada , Biarnes Josefina , Pizarro Eduarda , Halperin Irene

Introduction: The autosomal dominant multiple endocrine neoplasia type 1 (MEN1), characterized by parathyroid hyperplasia (PH), neuroendocrine digestive tumours (NET) and pituitary adenomas (PA), is due to mutations in the tumor suppressor gene MEN1 encoding a 610-amino acid protein, menin. Guidelines recommend MEN1 mutational analysis in index cases with two or more MEN1-associated tumours, in first-degree relatives of mutation carriers and when clinical dat...

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Endocrine Abstracts

Our experience in the evaluation criteria used for the genetic study of patients suspected of being affected by multiple endocrine neoplasia type 1 and mutational spectrum

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