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ATM variants have been reported in different types of brain tumors

Brain tumor typesYear and countrySamplesResults
Glioma2011: UK, Sweden and Denmark153188 cases with grade II and III glioma4 SNPs mapped to ATM had significant association with survival
2013: China154384 glioma patients and 384 cancer-free controls186 cases and 203 controls were heterozygote and 58 cases and 56 controls were homozygote for rs189037 SNP
2016: China158771 glioma cases and 752 cancer-free controls3-locus interaction model involving NBS1 rs1805794, MRE11 rs10831234, and ATM rs227062 is the best model for the prediction of the risk of glioma
2007: Nordik-UK60680 glioma cases and 1555 controls were analyzed for five ATM polymorphisms No significant association between cases and controls. No significant difference in ATM haplotypes distribution between cases and controls
2008: Iran152One case with astrocytoma and in her 14 relatives. Regarding the group II controls 12 out of 129 were revealed to carry D1853N.Two novel (IVS38-63T>A and IVS38-30A>G) alterations were found in proband
10 astrocytoma and 40 other types of brain tumors screened for D1853N.D1853N was observed in 50% of astrocytoma cases and 27.5% of other brain tumor types
Medulloblastoma2003: Israel14 13 tumors screened for ATM mutations and 9 for loss of heterozygosity They identified four with the D1853N and one with F858L. The LOH of the 11q region detected in 25% of informative cases
Meningioma2007: Nordik-UK60 503 meningioma cases and 1555 controls were analyzed for five ATM polymorphisms T10182A and G142798A variants were significantly less common in cases than in controls. A significant difference in ATM haplotype distribution was observed between cases and controls
Pediatric brain tumors2016: Denmark, Sweden, Norway, and Switzerland159Saliva DNA from 245 cases and 489 controls, aged 7-19 years at diagnosis was genotyped.An increased risk of non-astrocytoma subtype of PBTs associated with ATM rs170548 (IVS63 + 97)