Searchable abstracts of presentations at key conferences in endocrinology

ea0029s40.1 | New familial endocrine cancer syndromes: pathophysiology and counselling | ICEECE2012

DICER1 mutations characterize a novel syndrome with endocrine features

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 ...