Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519903
rs1057519903
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.720 GeneticVariation BEFREE Additionally, H3F3A K27M was not detected in the 2 diffuse astrocytomas. 24285547

2014

dbSNP: rs1057519903
rs1057519903
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.720 GeneticVariation BEFREE Because H3F3A K27M mutations occur exclusively in pediatric diffuse high-grade astrocytomas, analysis of codon 27 mutational status could be useful in the differential diagnosis of these neoplasms. 23429371

2013

dbSNP: rs1057519903
rs1057519903
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE As compared to H3 K27M-wildtype tumo</span>rs, there were no differences in age at diagnosis, sex, tumor grade, contrast enhancement on MRI, extent of resection, or treatment received. 30864101

2019

dbSNP: rs1057519903
rs1057519903
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 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

dbSNP: rs1057519903
rs1057519903
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 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

dbSNP: rs1057519903
rs1057519903
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 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

dbSNP: rs1057519903
rs1057519903
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE Molecular diagnosis of tumor tissue obtained at first and second surgeries revealed H3F3A K27M mutation in both primary and secondary specimens. 27392443

2016

dbSNP: rs1057519903
rs1057519903
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE We only identified H3F3A K27M in 2 of 34 cases (5.9%), with both tumors located in the posterior fossa. 25231549

2015

dbSNP: rs1057519903
rs1057519903
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 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

dbSNP: rs1057519903
rs1057519903
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE One thalamic tumour had an H3F3A p.K27M. 24127995

2014

dbSNP: rs1057519903
rs1057519903
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE We identified an increased number of iCNA in older children compared to infants, and increased iCNA in H3F3A K27M mutant tumours compared to G34R/V and wild-type. 24548782

2014

dbSNP: rs1057519903
rs1057519903
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE Evaluation of histone 3 lysine 27 trimethylation (H3K27me3) and enhancer of Zest 2 (EZH2) in pediatric glial and glioneuronal tumors shows decreased H3K27me3 in H3F3A K27M mutant glioblastomas. 23414300

2013

dbSNP: rs1057519903
rs1057519903
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE None of the other tumor entities showed H3F3A K27M mutation. 23429371

2013

dbSNP: rs1057519903
rs1057519903
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.080 GeneticVariation BEFREE Mutated IDH1 R132H protein and H3F3A K27M mutations indicate that a substantial number of GBMc are "metastatic" or "diaschismatic" lesions. 30203362

2018

dbSNP: rs1057519903
rs1057519903
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.080 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

dbSNP: rs1057519903
rs1057519903
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.080 GeneticVariation BEFREE These results demonstrate that we have developed a new reliable procedure for detecting the H3F3A K27M mutation in pediatric glioblastoma patient samples. 26376656

2016

dbSNP: rs1057519903
rs1057519903
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.080 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

dbSNP: rs1057519903
rs1057519903
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.080 GeneticVariation BEFREE These results suggest that immunohistochemical detection of H3.3 K27M is a sensitive and specific surrogate for the H3F3A K27M mutation and defines a prognostically poor subset of pediatric GBM. 25200322

2014

dbSNP: rs1057519903
rs1057519903
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.080 GeneticVariation BEFREE The K27M mutation occurred in 35 of 129 glioblastomas (27.1%) and in 5 of 28 (17.9%) anaplastic astrocytomas. 23429371

2013

dbSNP: rs1057519903
rs1057519903
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.080 GeneticVariation BEFREE Our results indicate that H3F3A K27M mutant GBMs show decreased H3K27me3 that may be of both diagnostic and biological relevance. 23414300

2013

dbSNP: rs1057519903
rs1057519903
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.080 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

dbSNP: rs1057519903
rs1057519903
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma
0.060 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

dbSNP: rs1057519903
rs1057519903
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma
0.060 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

dbSNP: rs1057519903
rs1057519903
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma
0.060 GeneticVariation BEFREE In order to facilitate diagnosis of DIPG patients, a quick and reliable method to identify the H3F3A K27M mutation is needed. 26376656

2016

dbSNP: rs1057519903
rs1057519903
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma
0.060 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