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

N. diseases: 134; N. variants: 4
Disease: Brain Neoplasms ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.130 GeneticVariation group BEFREE Diffuse intrinsic pontine gliomas (DIPGs) are highly aggressive pediatric brain tumors that are characterized by a recurrent mutation (K27M) within the histone H3 encoding genes H3F3A or HIST1H3A/B/C. 30943283 2019
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.130 Biomarker group BEFREE We demonstrate the feasibility of two strategies to detect H3 mutations in CSF-derived tumor DNA from children with brain tumors (n = 11) via either targeted Sanger sequencing of H3F3A and HIST1H3B, or H3F3A c.83 A > T detection via nested PCR with mutation-specific primers. 28416018 2017
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.130 GeneticVariation group CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.130 GeneticVariation group BEFREE We performed a pyrosequencing-based analysis for the identification of H3F3A codon 27 and codon 34 mutations in 338 pediatric brain tumors. 23429371 2013