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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 Ghigo
Published 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.
Keyphrases
  • middle aged
  • genome wide
  • copy number
  • high grade
  • dna methylation