ea0029p839 | Endocrine tumours and neoplasia | ICEECE2012
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 5080% 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...