ea0029s40.1 | New familial endocrine cancer syndromes: pathophysiology and counselling | ICEECE2012
Wu M.
, Priest J.
, Hamel N.
, Sabbaghian N.
, Xu B.
, Tischkowitz M.
, Choong C.
, Deal C.
, Albrecht S.
, Charles A.
, Goodyer P.
, Foulkes W.
DICER1 is a microRNA processing-RNase III-type endoribonuclease and is crucial for embryogenesis and early development. Nearly 50 different heterozygous germ-line DICER1 mutations have been reported world-wide in individuals who developed, as children or young adults, pleuropulmonary blastoma, cystic nephroma, ovarian sex cord stromal tumors (especially Sertoli–Leydig cell tumor), multi-nodular goiter, embryonal rhabdomyosarcoma (of cervix and other typical sites), Wilms ...