hrp0086p1-p689 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Novel Germline Mutations in DICER1 Gene in Patients with Different Pediatric Hereditary Tumors

Marino Roxana , Galeano Jesica , Ramirez Pablo , Garrido Natalia Perez , Vaiani Elisa , Costanzo Mariana , Herzovich Viviana , Dujovne Noelia , Lubieniecki Fabiana , De la Rosa Laura , Obregon Gabriela , Chantada Guillermo , Aurelio Marco Rivarola , Belgorosky Alicia

Background: Carriers of germline DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 syndrome, associated with tumors such as pleuropulmonary blastoma (PPB), ovarian Sertoli-Leydig cell tumors (SLCT), multinodular goiter (MNG), cystic nephroma (CN), embryonal rhabdomyosarcoma (ERMS) or primitive neuroectodermic tumor. DICER1 is involved in the generation of microRNAs (miRNAs), short, double-stranded, non-coding RNAs that modulate gene expression at ...