rs1057519904, H3C11

N. diseases: 17
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Squamous cell carcinoma of the head and neck
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Brain Stem Glioma
CUI: C0677865
Disease: Brain Stem Glioma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
GLIOMA SUSCEPTIBILITY 1
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
0.700 GeneticVariation UNIPROT Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas. 22286216 2012
Diffuse Intrinsic Pontine Glioma
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
0.050 GeneticVariation BEFREE In conclusion, our study demonstrates a high frequency of histone K27M mutations in DIPG when MRI features are carefully assessed, thus confirming the consistency of imaging with biological markers in our institutional series of DIPG. 31848724 2020
Diffuse Intrinsic Pontine Glioma
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
0.050 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
Diffuse Intrinsic Pontine Glioma
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
0.050 GeneticVariation BEFREE All DIPG</span> but one were found to harbour either a somatic H3-K27M mutation and/or loss of H3K27 trimethylation. 26399631 2015
Diffuse Intrinsic Pontine Glioma
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
0.050 GeneticVariation BEFREE Sequencing analysis showed c.83A>T mutations in the H3F3A or HIST1H3B gene in 77 % of our DIPG cohort. 24297113 2014
Diffuse Intrinsic Pontine Glioma
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
0.050 GeneticVariation BEFREE We found that 78% of DIPGs and 22% of non-BS-PGs contained a mutation in H3F3A, encoding histone H3.3, or in the related HIST1H3B, encoding histone H3.1, that caused a p.Lys27Met amino acid substitution in each protein. 22286216 2012
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.030 GeneticVariation BEFREE Mutated IDH1 R132H protein and H3F3A K27M mutations indicate that a substantial number of GBMc are "metastatic" or "diaschismatic" lesions. 30203362 2018
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.030 GeneticVariation BEFREE Recent studies on high-grade pediatric GBM have identified two recurrent mutations (K27M and G34R/V) in genes encoding histone H3 (H3F3A for H3.3 and HIST1H3B for H3.1). 23907119 2013
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
0.030 GeneticVariation BEFREE K27M- and G34V-H3.3 have location-based incidence (brainstem/cortex) and potentially play distinct roles in pediatric GBM pathogenesis. 22661320 2012
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.020 GeneticVariation BEFREE We found 56 H3.3 K27M</span>-mutant tumors (66%), 6 H3.1 K27M-mutant tumors (7%), and 23 H3-wildtype tumors (27%). 29016894 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.020 GeneticVariation BEFREE Patients with tumours harbouring a K27M mutation in H3.3 (H3F3A) did not respond clinically to radiotherapy as well, relapsed significantly earlier and exhibited more metastatic recurrences than those in H3.1 (HIST1H3B/C). 26399631 2015
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
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
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.010 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
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
Cerebellar Neoplasms
CUI: C0007762
Disease: Cerebellar Neoplasms
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
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
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
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
0.010 GeneticVariation BEFREE Recent studies on high-grade pediatric GBM have identified two recurrent mutations (K27M and G34R/V) in genes encoding histone H3 (H3F3A for H3.3 and HIST1H3B for H3.1). 23907119 2013