Abstract

Neuroblastoma is one of the most malignant solid tumors in infants and young children. No more than 40% of neuroblastoma patients can survive for longer than five years after it has been diagnosed. XPC protein is a pivotal factor that recognizes DNA damage and starts up the nucleotide excision repair (NER) in mammalian cells. This makes up the first group to defend against the cancer. Previous studies have identified that XPC gene polymorphisms were associated with various types of cancer. However, the associations between XPC gene polymorphisms and neuroblastoma risk have not yet been studied. We investigated the associations between three XPC gene polymorphisms (rs2228001 A>C, rs2228000 C>T, and rs2229090 G>C) and neuroblastoma risk with 256 neuroblastoma patients and 531 healthy controls in a Chinese Han population. Odds ratios and 95% confidence intervals were used to access the association between these three polymorphisms and neuroblastoma risk. No significant association was detected between these three polymorphisms and neuroblastoma risk in the overall analysis as well as in the stratification analysis. These results suggest that none of these three polymorphisms may be associated with the risk of neuroblastoma in the Chinese Han population.

Highlights

  • Neuroblastoma originates in primitive neural crest cells of the adrenal medulla or sympathetic ganglia

  • We investigated the relationship between Xeroderma pigmentosum complementation C nucleotide excision repair (NER) (XPC) gene polymorphisms and neuroblastoma susceptibility in a Chinese Han population making use of a total of 787 participants (256 cases and 531 controls)

  • In this hospital-based study comprising 256 cases and 531 controls, none of the three XPC gene polymorphisms was associated with neuroblastoma risk when compared to the reference genotypes

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Summary

Introduction

Neuroblastoma originates in primitive neural crest cells of the adrenal medulla or sympathetic ganglia. It is one of the most malignant solid tumors in infants and young children, in particular, accounting for 7%−10% of childhood tumors. The tumor is found to primarily locate in the retroperitoneal parts (approximately 60%) and secondly in the mediastinum, pelvis, and cervical sympathetic ganglion. The morbidity of neuroblastoma in the live births is about 7.7 cases per million in China [4]. Despite the application of multimodality treatment including surgery, chemotherapy, and radiotherapy, no more than 40% of neuroblastoma patients could survive for longer than five years after diagnosis. The etiology of neuroblastoma remains largely unclear [5, 6]

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