Searchable abstracts of presentations at key conferences in endocrinology

ea0029p839 | Endocrine tumours and neoplasia | ICEECE2012

Multiple endocrine neoplasia syndrome type 1 (MEN-1) in Sardinian population: low prevalence of Men-1 mutations and detection of a new inactivating mutation of the CDKI gene p27

Mastinu M. , Cetani F. , Marcocci C. , Pardi E. , Cappai A. , Satta C. , Badessi F. , Delitala A. , Lai R. , Fanciulli G. , Mariotti S.

Introduction: The genetic basis of multiple endocrine neoplasia type 1 (MEN-1) syndrome is often represented by inactivating mutations of Men-1 gene, found in 50–80% of different series. Recently, other mutations of genes encoding for the CDKI complex (p15, p18, p21, and p27) and of the AIP gene have been described in a small number of Men-1-negative patients.Methods and results: Since 2002 we tested for Men-1 mutations 16 patients born and living i...