Abstract
Knowledge on the role of genetic polymorphisms in the etiology of pediatric brain tumors (PBTs) is limited. Therefore, we investigated the association between single nucleotide polymorphisms (SNPs), identified by candidate gene-association studies on adult brain tumors, and PBT risk.The study is based on the largest series of PBT cases to date. Saliva DNA from 245 cases and 489 controls, aged 7–19 years at diagnosis/reference date, was genotyped for 68 SNPs. Data were analyzed using unconditional logistic regression.The results showed EGFRrs730437 and EGFRrs11506105 may decrease susceptibility to PBTs, whereas ERCC1rs3212986 may increase risk of these tumors. Moreover, stratified analyses indicated CHAF1Ars243341, CHAF1Ars2992, and XRCC1rs25487 were associated with a decreased risk of astrocytoma subtype. Furthermore, an increased risk of non-astrocytoma subtype associated with EGFRrs9642393, EME1rs12450550, ATMrs170548, and GLTSCRrs1035938 as well as a decreased risk of this subtype associated with XRCC4rs7721416 and XRCC4rs2662242 were detected.This study indicates SNPs in EGFR, ERCC1, CHAF1A, XRCC1, EME1, ATM, GLTSCR1, and XRCC4 may be associated with the risk of PBTs. Therefore, cell cycle and DNA repair pathways variations associated with susceptibility to adult brain tumors also seem to be associated with PBT risk, suggesting pediatric and adult brain tumors might share similar etiological pathways.
Highlights
Brain tumors are the most common pediatric solid tumors and the leading cause of cancer mortality in children
A decreased risk of astrocytoma subtype associated with the C alleles of CHAF1A rs243341 and rs2992 as well as the T allele of XRCC1 rs25487 involved in DNA repair pathway was detected
The stratified analyses showed an increased risk of non-astrocytoma tumor subtype associated with the C alleles of epidermal growth factor receptor (EGFR) rs9642393, EME1 rs12450550, and ATM rs170548, and the T allele of GLTSCR1 rs1035938 as well as a decreased risk of this subtype associated with the A allele of XRCC4 rs7721416 and the C allele of XRCC4 rs2662242 (DNA repair pathway) (Tables 3 and 4)
Summary
Brain tumors are the most common pediatric solid tumors and the leading cause of cancer mortality in children. Some studies have found similar genetic mutation patterns for adult and pediatric brain tumor progression within specific histological types [14,15,16,17,18]. These similarities in prognostic factors provide an important starting point for identifying candidate genetic risk factors for PBTs; that might be similar to those involved in adult brain tumorigenesis [19]. In our previous genetic association study of PBT risk, we concluded that single nucleotide polymorphisms (SNPs) identified by genome-wide association studies (GWAS) on adult glioma might be associated with the risk of brain tumors in children [20]
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