Searchable abstracts of presentations at key conferences in endocrinology
Previous issue | Volume 32 | ECE2013 | Next issue

15th European Congress of Endocrinology


Clinical impact of rare mutations in endocrinology

ea0032s31.1 | Clinical impact of rare mutations in endocrinology | ECE2013

Does a new mutation always predict a new disease? Lessons from p27 mutations

Pellegata Natalia

A few years ago a novel multiple endocrine neoplasia syndrome, named MEN type 4 (MEN4), was discovered thanks to studies conducted on a MEN syndrome in the rat (named MENX). Rat and human syndromes are both caused by germline mutations in the Cdkn1b/CDKN1B gene encoding p27Kip1, a putative tumor suppressor which binds to and inhibits cyclin/cyclin dependent kinase complexes, thereby inhibiting cell cycle progression. MEN4 patients carry heterozygous mutations...

ea0032s31.2 | Clinical impact of rare mutations in endocrinology | ECE2013

Old and new MEN1 mutations

Calender Pr Alain

Multiple endocrine neoplasia type 1 (MEN1 – OMIM 131100) is considered as the major hereditary syndrome predisposing to multifocal endocrine tumors and a broad spectrum of non-endocrine lesions. Since the cloning of the MEN1 gene in 1997, a large number of studies have shown the large diversity of germline mutations found in patients with a poor genotype – phenotype correlation. Menin, the protein encoded by the MEN1 gene interacts with more than 30 nuclear/cellular ...

ea0032s31.3 | Clinical impact of rare mutations in endocrinology | ECE2013

Genetic diagnosis of hereditary neuroendocrine syndrome in asyntomatic patients: clinical and prognostic implications

Faggiano Antongiulio , Ramundo Valeria , Marciello Francesca , Del Prete Michela , Marotta Vincenzo , Colao Annamaria

Neuroendocrine tumours (NETs) can be sporadic or can arise in complex hereditary endocrine disorders such as multiple endocrine neoplasias (MENs), familial paragangliomatosis (FPGLs), neurofibromatosis type 1 (NF1), von Hippel–Lindau disease (VHL), tuberous sclerosis (TSC). It has been estimated that hereditary NET occurrence varies with site of origin of the tumour, representing 5–30% of all cases of NET. These rates seems to be an underestimation and novel mutation...