DICER1 is crucial for embryogenesis and early development. Forty different heterozygous germline DICER1 mutations have been reported worldwide in 42 probands that developed as children or young adults, pleuropulmonary blastoma (PPB), cystic nephroma (CN), ovarian sex cord-stromal tumors (especially Sertoli-Leydig cell tumor [SLCT]), and/or multinodular goiter (MNG). We report DICER1 mutations in seven additional families that manifested uterine cervix embryonal rhabdomyosarcoma (cERMS, four cases) and primitive neuroectodermal tumor (cPNET, one case), Wilms tumor (WT, three cases), pulmonary sequestration (PS, one case), and juvenile intestinal polyp (one case). One carrier developed (age 25 years) a pleomorphic sarcoma of the thigh; anothe...
Embryonal rhabdomyosarcoma (ERMS) of the uterus has recently been shown to frequently harbor DICER1 ...
A young woman carrying germline DICER1 mutation was discovered to have a pituitary microprolactinoma...
International audienceAIMS: FOXL2 mutation has been consistently identified in adult granulosa cell ...
DICER1 is crucial for embryogenesis and early development. Forty different heterozygous germline DIC...
BACKGROUND: Constitutional DICER1 mutations were recently reported to cause familial pleuropulmonary...
DICER1 syndrome is a rare genetic condition predisposing to hereditary cancer and caused by variants...
DICER1 syndrome (OMIM 606241, 601200) is a rare autosomal dominant familial tumor predisposition dis...
BACKGROUND: Sarcomas are rare and heterogeneous cancers. We assessed the contribution of DICER1 muta...
Embryonal rhabdomyosarcoma (ERMS) of the uterus has recently been shown to frequently harbor DICER1 ...
International audienceThe DICER1 gene encodes an endoribonuclease involved in the production of matu...
The DICER1 gene, which codes for a protein of the same name, is vital to the production of microRNA....
DICER1 syndrome is characterized by a unique combination of features and a growing list of associate...
Background Multilocular cystic nephroma (CN) is a benign kidney tumour and is part of a family of ki...
Context: Nontoxic multinodular goiter (MNG) is frequently observed in the general population, but li...
AIMS: Gynandroblastoma is a rare ovarian sex cord-stromal tumor characterized by the presence of bot...
Embryonal rhabdomyosarcoma (ERMS) of the uterus has recently been shown to frequently harbor DICER1 ...
A young woman carrying germline DICER1 mutation was discovered to have a pituitary microprolactinoma...
International audienceAIMS: FOXL2 mutation has been consistently identified in adult granulosa cell ...
DICER1 is crucial for embryogenesis and early development. Forty different heterozygous germline DIC...
BACKGROUND: Constitutional DICER1 mutations were recently reported to cause familial pleuropulmonary...
DICER1 syndrome is a rare genetic condition predisposing to hereditary cancer and caused by variants...
DICER1 syndrome (OMIM 606241, 601200) is a rare autosomal dominant familial tumor predisposition dis...
BACKGROUND: Sarcomas are rare and heterogeneous cancers. We assessed the contribution of DICER1 muta...
Embryonal rhabdomyosarcoma (ERMS) of the uterus has recently been shown to frequently harbor DICER1 ...
International audienceThe DICER1 gene encodes an endoribonuclease involved in the production of matu...
The DICER1 gene, which codes for a protein of the same name, is vital to the production of microRNA....
DICER1 syndrome is characterized by a unique combination of features and a growing list of associate...
Background Multilocular cystic nephroma (CN) is a benign kidney tumour and is part of a family of ki...
Context: Nontoxic multinodular goiter (MNG) is frequently observed in the general population, but li...
AIMS: Gynandroblastoma is a rare ovarian sex cord-stromal tumor characterized by the presence of bot...
Embryonal rhabdomyosarcoma (ERMS) of the uterus has recently been shown to frequently harbor DICER1 ...
A young woman carrying germline DICER1 mutation was discovered to have a pituitary microprolactinoma...
International audienceAIMS: FOXL2 mutation has been consistently identified in adult granulosa cell ...