DICER1, dicer 1, ribonuclease III, 23405

N. diseases: 302; N. variants: 191
Disease: Carcinosarcoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007140
Disease: Carcinosarcoma
Carcinosarcoma 		0.020 GeneticVariation disease BEFREE Carcinosarcomas with rhabdomyosarcomatous differentiation showed frequent mutations in TP53 (7/8, 88%) and the PI3K/PTEN pathway (6/8, 75%) but lacked DICER1 mutations. 30266945 2019
CUI: C0007140
Disease: Carcinosarcoma
Carcinosarcoma 		0.020 AlteredExpression disease BEFREE A series of 8 tubo-ovarian carcinosarcomas was characterized for the following: (i) immunohistochemical expression of MNF116, epithelial membrane antigen, vimentin, S100, chromogranin, synaptophysin, desmin, myogenin (MYF4), and p53; (ii) mutational profiling of KRAS, BRAF, PIK3CA, NRAS, TP53, and DICER1 genes. 31688243 2019