Multiple endocrine neoplasia type 1 associated with a new germline Men1 mutation in a family with atypical tumor phenotype

Nikolaos Perakakis, Felix Flohr, Gian Kayser, Oliver Thomusch, Lydia Parsons, Franck Billmann, Ernst von Dobschuetz, Susanne Rondot, Jochen Seufert, Katharina Laubner

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BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal-dominant hereditary disorder associated with the development of endocrine tumors due to reduced expression of the tumor suppressor protein menin. Recent studies indicate a general role of menin in carcinogenesis, affecting the prevalence and clinical course of common non-endocrine tumors such as breast cancer, hepatocellular carcinoma and melanoma. Here we report a new germline missense mutation …