True MEN1 or phenocopy? Evidence for geno-phenotypic correlations in MEN1 syndrome

• Published in: Endocrine Vol. 65; no. 2; pp. 451 - 459
• Main Authors: Kövesdi, Annamária, Tóth, Miklós, Butz, Henriett, Szücs, Nikolette, Sármán, Beatrix, Pusztai, Péter, Tőke, Judit, Reismann, Péter, Fáklya, Mónika, Tóth, Géza, Somogyi, Anikó, Borka, Katalin, Erdei, Annamária, Nagy, Endre V., Deák, Veronika, Valkusz, Zsuzsanna, Igaz, Péter, Patócs, Attila, Grolmusz, Vince Kornél
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.08.2019; Springer Nature B.V
• Subjects: Adult; Age of Onset; Aged; Diabetes; DNA Mutational Analysis; Endocrinology; Female; Frameshift mutation; Genetic Association Studies; Genetic screening; Genetic Testing; Genotype & phenotype; Genotypes; Humanities and Social Sciences; Humans; Hungary - epidemiology; Incidence; Internal Medicine; Male; Medicine; Medicine & Public Health; Middle Aged; multidisciplinary; Multiple endocrine neoplasia; Multiple Endocrine Neoplasia Type 1 - epidemiology; Multiple Endocrine Neoplasia Type 1 - genetics; Mutation; Neuroendocrine tumors; Original; Original Article; Penetrance; Phenotypes; Proto-Oncogene Proteins - genetics; Retrospective Studies; Science; Tumors; Hungary; Phenocopy; Multiple endocrine neoplasia type 1; Gastroenteropancreatic neuroendocrine tumor; Genotype–phenotype associations; Neuroendocrine tumors

Purpose Multiple endocrine neoplasia type 1 is a rare tumor syndrome caused by germline mutations of MEN1 gene. Phenotype varies widely, and no definitive correlation with the genotype has been observed. Mutation-negative patients with MEN1-associated tumors represent phenocopies. By comparing mutat...