H3-3A, H3.3 histone A, 3020

N. diseases: 134; N. variants: 4
Disease: Bone Sarcoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1704327
Disease: Bone Sarcoma
Bone Sarcoma 		0.020 Biomarker group BEFREE Moreover, recurrent mutations in histone chromatin remodelling genes, including H3F3A, ATRX and DOT1L, were identified in five of 14 samples (36%), highlighting the potential role of deregulated chromatin remodelling pathways in UPSb tumourigenesis. 30281149 2019
CUI: C1704327
Disease: Bone Sarcoma
Bone Sarcoma 		0.020 GeneticVariation group BEFREE We studied seven clinicopathologically defined malignant giant cell tumors, as well as two H3F3A-mutant bone sarcomas without giant cell tumor histology using a combination of clinicopathological, immunohistochemical, and molecular methods (Sanger sequencing + pyrosequencing or next generation sequencing). 31285528 2019