What is it about?
More than 1,300 MEN1 gene 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, identifying MEN1 mutations 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.
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Perspectives
Implementation of all of these procedures will facilitate, in the next few years, the genetic diagnosis of diseases or groups of related disorders, such as multiple endocrine neoplasia syndromes, making their differential genetic diagnosis possible by creating an up-to-date specific platform that includes all specifically relevant genes. In such a way, it will soon be possible to classify different human oncological disorders, including MEN1 syndrome, according to the underlying genotype rather than solely the biochemical/ clinical phenotype. Thus, in the near future, it will be possible for MEN1-affected subjects to have targeted medical consultations and interventions and engagement in gene-specific patient groups, as well as more appropriate treatments.
Dr. ALBERTO FALCHETTI
Endosmet, Villa Donatello, Private Hospital, FLorence, Italy
Read the Original
This page is a summary of: Genetics of multiple endocrine neoplasia type 1 syndrome: what's new and what's old, F1000Research, January 2017, Faculty of 1000, Ltd.,
DOI: 10.12688/f1000research.7230.1.
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