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Correlation between the genetic variants of base excision repair (BER) pathway genes and neuroblastoma susceptibility in eastern Chinese children

机译:基地切除修复(BER)途径基因遗传变异与东部中国儿童神经母细胞瘤易感性之间的相关性

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摘要

Neuroblastoma is the most common non-central nerve system (CNS) solid tumor in pediatrics [1]. Neuroblastoma accounts for approximately 8% of all pediatric cancers but disproportionally causes a high cancer mortality (15%) in children [2]. Pediatric patients with low-risk neuroblastoma witness a 5-year overall survival rate 90%, whereas the 5-year overall survival rate in high-risk neuroblastoma pediatric patients is 40% [3]. Genetic susceptibility to neuroblastoma is a promising area of research and needs to be fully investigated. For sporadic neuroblastoma, genome-wide association studies (GWASs) have identified over a dozen causal genetic loci. Studies of candidate genes also reported a decent number of variants predisposing to neuroblastoma. However, the known genetic alternations still could not unveil the full genetic underpinnings of neuroblastoma.
机译:神经母细胞瘤是儿科中最常见的非中枢神经系统(CNS)实体瘤[1]。 神经母细胞瘤占所有儿科癌症的8%,但对儿童的高癌症死亡率(15%)造成不成比例[2]。 儿科患者具有低风险神经母细胞瘤的总体生存率> 90%,而高风险神经母细胞瘤儿科患者的5年整体存活率是& 40%[3]。 神经母细胞瘤的遗传易感性是一个有前途的研究领域,需要完全调查。 对于散发性神经母细胞瘤,基因组 - 宽协会研究(GWASS)已经鉴定过十几种因果遗传基因座。 候选基因的研究还报告了易于神经母细胞瘤的体内变异数。 然而,已知的基因交替仍然无法揭示神经母细胞瘤的全遗传凋亡。

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