Searchable abstracts of presentations at key conferences in endocrinology

ea0031p151 | Neoplasia, cancer and late effects | SFEBES2013

Phenotype–genotype analysis in a cohort of patients with multiple endocrine neoplasia type 1 identifies a novel nonsense mutation at codon 554

Reddy Snigdha , Goudie Calum , Parker Victoria , Park Soo-Mi , Treacy Becky , Simpson Helen

Aims: MEN1 is characterised by parathyroid, pituitary and pancreatic tumours in association with neoplasia of intra-thoracic endocrine tissue, adrenal glands and cutaneous manifestations. Mutations of the tumour suppressor Menin are causative and affected patients possess heterozygous germline mutations in MEN1, with acquisition of a second hit in the wild-type allele initiating tumourigenesis. Phenotype–genotype correlations can provide insights into the molecular functi...