rs1057519903, H3-3A

N. diseases: 28
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
gliosarcoma
CUI: C0206726
Disease: gliosarcoma
0.010 GeneticVariation BEFREE We histopathologically identified 14 glioblastomas, 4 grade III astrocytomas and 1 gliosarcoma.Two cases showed a H3F3A K27M mutation. 29809131 2019
Childhood Gliosarcoma
CUI: C3899658
Disease: Childhood Gliosarcoma
0.010 GeneticVariation BEFREE We histopathologically identified 14 glioblastomas, 4 grade III astrocytomas and 1 gliosarcoma.Two cases showed a H3F3A K27M mutation. 29809131 2019
Adult Gliosarcoma
CUI: C1541317
Disease: Adult Gliosarcoma
0.010 GeneticVariation BEFREE We histopathologically identified 14 glioblastomas, 4 grade III astrocytomas and 1 gliosarcoma.Two cases showed a H3F3A K27M mutation. 29809131 2019
Malignant Glioma
CUI: C0555198
Disease: Malignant Glioma
0.010 GeneticVariation BEFREE A case report of adult cerebellar high-grade glioma with H3.1 K27M mutation: a rare example of an H3 K27M mutant cerebellar tumor. 29264735 2018
High grade glioma
CUI: C4722099
Disease: High grade glioma
0.010 GeneticVariation BEFREE A case report of adult cerebellar high-grade glioma with H3.1 K27M mutation: a rare example of an H3 K27M mutant cerebellar tumor. 29264735 2018
High Grade Astrocytic Tumor
CUI: C3640999
Disease: High Grade Astrocytic Tumor
0.010 GeneticVariation BEFREE We herein present the case of an adult cerebellar high-grade astrocytic tumor with H3.1 K27M mutation in a 45-year-old man, which also involvedTP53 mutation and was immunonegative for ATRX. 29264735 2018
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
0.010 GeneticVariation BEFREE Frequent mutations in chromatin-modifier genes were identified including, noticeably, a truncating mutation in SETD2 (n = 4), which resulted in loss of H3K36 trimethylation and was mutually exclusive with H3F3A K27M mutation (n = 3), suggesting that epigenetic dysregulation may lead to DCG tumorigenesis. 28852847 2017
Brain Stem Glioblastoma
CUI: C1332610
Disease: Brain Stem Glioblastoma
0.010 GeneticVariation BEFREE In addition, we were able to discern the H3F3A K27M mutation in a newly obtained pediatric brainstem glioblastoma sample whose H3.3 status was not known previously, and in three other DIPG samples as well as paraffin embedded samples. 26376656 2016
Monosomy
CUI: C0026499
Disease: Monosomy
0.010 GeneticVariation BEFREE In this series, histone H3-K27M mutation was mutually exclusive with IDH1 mutation and EGFR amplification, rarely co-occurred with BRAF-V600E mutation, and was commonly associated with p53 overexpression, ATRX loss (except in pontine gliomas), and monosomy 10. 26517431 2016
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.010 GeneticVariation BEFREE We found conservation of heterozygous K27M mutations in H3F3A (n = 4) or HIST1H3B (n = 3) across all primary, contiguous, and metastatic tumor sites in all DIPGs. 26727948 2016
Malignant transformation
CUI: C1608408
Disease: Malignant transformation
0.010 GeneticVariation BEFREE This report demonstrates minute neuroradiological and pathological features of malignant transformation from thalamic low grade glioma with H3F3A K27M mutation. 27392443 2016
Low grade glioma
CUI: C1997217
Disease: Low grade glioma
0.010 GeneticVariation BEFREE This report demonstrates minute neuroradiological and pathological features of malignant transformation from thalamic low grade glioma with H3F3A K27M mutation. 27392443 2016
Central Nervous System Neoplasms
CUI: C0085136
Disease: Central Nervous System Neoplasms
0.010 GeneticVariation BEFREE H3F3A K27M mutation in pediatric CNS tumors: a marker for diffuse high-grade astrocytomas. 23429371 2013
Anaplastic astrocytoma
CUI: C0334579
Disease: Anaplastic astrocytoma
0.010 GeneticVariation BEFREE The K27M mutation occurred in 35 of 129 glioblastomas (27.1%) and in 5 of 28 (17.9%) anaplastic astrocytomas. 23429371 2013
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.020 GeneticVariation 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
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
0.020 GeneticVariation BEFREE Here, we report a rare patient with spinal ganglioglioma carrying an H3 K27M mutation. 29675936 2018
Ganglioglioma
CUI: C0206716
Disease: Ganglioglioma
0.020 GeneticVariation BEFREE We demonstrate in this first series of midline GGs that the H3 K27M mutation can occur in association with the BRAF V600E mutation in grade I glioneuronal tumors. 27984673 2018
Childhood Ganglioglioma
CUI: C1332969
Disease: Childhood Ganglioglioma
0.020 GeneticVariation BEFREE We demonstrate in this first series of midline GGs that the H3 K27M mutation can occur in association with the BRAF V600E mutation in grade I glioneuronal tumors. 27984673 2018
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.020 GeneticVariation BEFREE These data suggest that H3 K27M cannot be considered a specific hallmark of grade IV diffuse gliomas and highlight the importance of integrated histomolecular diagnosis in paediatric brain tumors. 27984673 2018
Cerebellar Neoplasms
CUI: C0007762
Disease: Cerebellar Neoplasms
0.020 GeneticVariation BEFREE A case report of adult cerebellar high-grade glioma with H3.1 K27M mutation: a rare example of an H3 K27M mutant cerebellar tumor. 29264735 2018
Childhood Ganglioglioma
CUI: C1332969
Disease: Childhood Ganglioglioma
0.020 GeneticVariation BEFREE Here, we report a rare patient with spinal ganglioglioma carrying an H3 K27M mutation. 29675936 2018
Cerebellar Neoplasms
CUI: C0007762
Disease: Cerebellar Neoplasms
0.020 GeneticVariation BEFREE More cerebellar tumors need to be tested for H3 K27M mutations to clarify the clinical and histopathological spectra of this tumor. 28547652 2017
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
0.030 GeneticVariation BEFREE Histologically, the tumor was considered to be glioblastoma; however, a part of the tumor exhibiting low proliferative activity appeared to be consistent with long-standing H3 K27M-mutant tumors in the literature.Another case was a 69-year-old male. 28547652 2017
Childhood Glioblastoma
CUI: C0280474
Disease: Childhood Glioblastoma
0.030 GeneticVariation BEFREE Histologically, the tumor was considered to be glioblastoma; however, a part of the tumor exhibiting low proliferative activity appeared to be consistent with long-standing H3 K27M-mutant tumors in the literature.Another case was a 69-year-old male. 28547652 2017
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
0.030 GeneticVariation BEFREE Histone H3.3 (H3F3A) mutation in the codon for lysine 27 (K27M) has been found as driver mutations in pediatric glioblastoma and has been suggested to play critical roles in the pathogenesis of thalamic gliomas and diffuse intrinsic pontine gliomas. 27392443 2016