Association of genetic polymorphisms in PRKDC and XRCC4 with risk of ESCC in a high-incidence region of North China



The nonhomologous end-joining (NHEJ) pathway is the main mechanism repairing DNA double-strand breaks (DSBs) in human cells. This research was designed to study the association between selected variants in NHEJ members and esophageal squamous cell carcinoma (ESCC).


Two single nucleotide polymorphisms (SNPs), PRKDC (rs7003908) and X-ray repair cross complementing group 4 (XRCC4; rs1805377), were genotyped in a total of 189 patients with ESCC and 189 unrelated control individuals in a high-risk area for ESCC in North China, and the polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) method was applied.


A significantly different distribution was found in the frequency of PRKDC (rs7003908) genotype between the ESCC group and controls. Individuals homozygous for the C allele had a significant (3.185-fold) increased risk of ESCC. As for XRCC4 (rs1805377) polymorphism, no difference was found in distribution between the ESCC and control groups.


Our results suggest that variation in DNA repair genes may be associated with risk of ESCC.

Tumori 2016; 102(2): 131 - 134




Hong-Li Yang, Dong-Dong Qiao, Kun Li, Xiao-Li Cheng, Jing Yang, Jian-Jian Zhao, Chang-Qing Xu, Yan-Qing Li

Article History


Financial support: This study was supported by grants from the Program of Pharmaceutical Health and Technology Development of Shandong Province (No. HZ068), the National Science Foundation of Shandong Province (No. ZR2012HL20) and the National Natural Science Foundation of China (NSFC 81200275).
Conflict of interest: The authors declare that they have no conflict of interest.

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  • Department of Gastroenterology, Qilu Hospital of Shandong University, Jinan - PR China
  • Department of Gastroenterology, Shandong Qianfoshan Hospital Affiliated With Shandong University, Jinan - PR China
  • Shandong Provincial Mental Health Center, Jinan - PR China
  • Qingdao Sanatorium of Shandong Province, Qingdao - PR China
  • Hong-Li Yang and Dong-Dong Qiao contributed equally to this work.

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