ATRX, ATRX chromatin remodeler, 546

N. diseases: 412; N. variants: 38
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 GeneticVariation disease BEFREE There is also emerging evidence that NF1-associated high-grade astrocytomas have frequent co-existing alterations such as ATRX mutations and an alternative lengthening of telomeres (ALT) phenotype responsible for unique biologic properties. 30963251 2020
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 GeneticVariation disease BEFREE Gliomas were assigned to one of the three molecular groups: Group O (IDH-mutant, 1p/19q co-deleted oligodendrogliomas, n = 95), Group A (IDH-mutant, ATRX inactivated astrocytomas, n = 175) and Group G (IDH wild-type, GBM-like, n = 46). 30536195 2019
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 GeneticVariation disease BEFREE The effect of allergy on survival was significant (p = 0.025, HR 0.525, 95% CI 0.299-0.924), independent of the effect of chromosome 1p (p < 0.001, HR 93.4, 95% CI 16-546) and 19q (p = 0.801, HR 1.2, 95% CI 0.23-6.9) codeletion or TP53 mutation (p = 0.015, HR 2.7, 95% CI 1.2-5.9), unrelated to TERT expression (p = 0.365, HR 1.1, 95% CI 0.89-1.4) or ATRX mutation (p = 0.904, HR 1.04, 95% CI 0.51-2.14), independent of tumor grade (grade 2 versus grade 3, p = 0.004, HR 2.2, 95% CI 1.3-3.8), not independent of histology (oligodendroglioma and oligoastrocytoma, NOS versus astrocytoma, p = 0.08, HR 0.62, 95% CI 0.36-1.1). 30611004 2019
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 GeneticVariation disease BEFREE ATRX and p53 mutation showed high spesificity (100% and 95.1% respectively) for diagnosing astrocytoma. 30592195 2019
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 GeneticVariation disease BEFREE A subset of subependymal giant cell astrocytoma-like astrocytomas are alternative lenghtening of telomere-positive and occur in the absence of ATRX alterations, thereby suggesting mutations in other DNA repair/maintenance genes may also facilitate alternative lenghtening of telomeres. 29973652 2018
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 GeneticVariation disease BEFREE A case of high-grade astrocytoma with BRAF and ATRX mutations following a long-standing course over two decades. 28185325 2017
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 Biomarker disease BEFREE Thus, loss of ATRX immunoexpression, shown for the first time in these tumors, along with immunopositivity for p53 and IDH1, indicates that these tumors are molecular astrocytomas, and their clinical behaviour is likely to recapitulate that of ATRX-mutant and IDH-mutant diffuse astrocytomas of the same grade. 27469217 2016
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 Biomarker disease BEFREE ATRX loss was detected by immunohistochemistry (IHC) and was shown to be much less frequent in pGBs (3.5%) than in grade II, III astrocytomas and IV sGBs (31%). 26395639 2016
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 GeneticVariation disease BEFREE None of the "astrocytic" gliomas showed p53 accumulation, and ATRX loss was found in three of the 15 "astrocytic" gliomas. 25991674 2015
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 GeneticVariation disease BEFREE IDH mutant infiltrating astrocytomas (grades II and III), as well as secondary GBMs, are characterized by TP53 and ATRX mutations. 26004297 2015
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 GeneticVariation disease BEFREE ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an "integrated" diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma. 25427834 2015
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 AlteredExpression disease BEFREE We analyzed markers, including IDH mutation(IDHmut), 1p19q codeletion(1p19qcodel), ATRX expression loss(ATRX loss) and p53 overexpression, and outcomes in 159 patients with WHO grade II oligodendroglioma, oligoastrocytoma, and astrocytoma (2003-2012). 26210286 2015
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 AlteredExpression disease BEFREE In our cohort, low ATRX mRNA expression was detected in 68% of astrocytomas, 50% of anaplastic astrocytomas and 41.6% of glioblastomas. 24810474 2014
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 AlteredExpression disease BEFREE We found that oligoastrocytomas harbored mutations in TP53 (80%, 12/15) and ATRX (60%, 9/15) at frequencies similar to pure astrocytic tumors, suggesting that oligoastrocytomas and astrocytomas may represent a single genetic or biological entity. p53 protein expression correlated with mutation status and showed significant increases in astrocytomas and oligoastrocytomas compared to oligodendrogliomas, a finding that also may facilitate accurate classification. 25257301 2014
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 GeneticVariation disease BEFREE In summary, our data show that the ALT and ATRX protein alterations are common in both pediatric and adult high-grade astrocytomas, often with associated PDGFRA gene amplification. 23765250 2013
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.100 GeneticVariation disease BEFREE ATRX is frequently mutated in grade II-III astrocytomas (71%), oligoastrocytomas (68%), and secondary glioblastomas (57%), and ATRX mutations are associated with IDH1 mutations and with an alternative lengthening of telomeres phenotype. 22869205 2012