title: Genetics of multiple endocrine neoplasia type 1 syndrome: what's new and what's old.
abstract: Despite its identification in 1997, the functions of theMEN1gene-the main gene underlying multiple endocrine neoplasia type 1 syndrome-are not yet fully understood. In addition, unlike theRET-MEN2 causative gene-no hot-spot mutational areas or genotype-phenotype correlations have been identified. More than 1,300MEN1gene mutations have been reported and are mostly "private" (family specific). Even when mutations are shared at an intra- or inter-familial level, the spectrum of clinical presentation is highly variable, even in identical twins. Despite these inherent limitations for genetic counseling, identifyingMEN1mutations in individual carriers offers them the opportunity to have lifelong clinical surveillance schemes aimed at revealing MEN1-associated tumors and lesions, dictates the timing and scope of surgical procedures, and facilitates specific mutation analysis of relatives to define presymptomatic carriers.
authors.affiliation: EndOsMet Unit, Villa Donatello, Piazzale Donatello 2, Florence 50100, Italy; Hercolani Clinical Center, Via D'Azeglio 46, Bologna 40136, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Falchetti
keywords: MEN1 gene mutation; Menin; Multiple Endocrine Neoplasia Type 1 Syndrome; familial MEN1; genetic screening MEN1