termsTerm
MEN1 and hereditary neuroendocrine syndromes
Inherited conditions (MEN1, VHL, NF1, tuberous sclerosis) that cause neuroendocrine tumours, often multiple and at a young age, so families need genetic testing and surveillance.
MEN1 (menin loss) causes parathyroid, pituitary and pancreatic NETs; MEN1 is also the most commonly mutated gene in sporadic pancreatic NETs (~40%), with DAXX/ATRX and mTOR-pathway genes. Germline testing is recommended for pancreatic NETs, paragangliomas (SDHx) and young-onset disease. Belzutifan is approved for VHL-associated pancreatic NETs.
Genomics: what this kind of term is about · animated schematic, not to scale
Category
Genomics