A novel likely pathogenetic variant p.(Cys235Arg) of the MEN1 gene in multiple endocrine neoplasia type 1 with multifocal glucagonomas.
Carlo SmirneGreta Maria GiacominiAlessandro Maria BertonBarbara PasiniF MercalliFlavia ProdamMarina CaputoLodewijk A A BrosensE L M MolleroR PitinoMario PirisiGianluca AimarettiEzio GhigoPublished in: Journal of endocrinological investigation (2024)
Our findings confirm the need for careful genetic analysis of patients with MEN1 and establish a likely pathogenic role for the new p.(Cys235Arg) variant, at least in the rare subset of MEN1 associated with glucagonomas.