DNA repair genes <i>XPC</i>, <i>XPG</i> polymorphisms: Relation to the risk of colorectal carcinoma and therapeutic outcome with oxaliplatin‐based adjuvant chemotherapy

Liu, Duo; Wu, Huizhe; Zhang, Yi-ning; Kang, Hui; Sun, Mingjun; Wang, Enhua; Yang, Xiuli; Lian, Min-qiong; Yu, Zhaojin; Zhao, Lin; Olopade, Olufunmilayo I.; Wei, Minjie

doi:10.1002/mc.21862

Cited by 35 publications

(51 citation statements)

References 43 publications

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“…The additional functions of XPG are evident by the presence of structural motifis that are common with proteins involved in repair-recombination and cell cycle regulation (Klungland et al, 1999). It is reported that polymorphisms in XPG are associated with various cancers, such as colorectal cancer, esophageal cancer and lung cancer as well as bladder cancer (Chang et al, 2008;Pan et al, 2009;Rouissi et al, 2011;Liu et al, 2012). However, there was only one study conducted in Chinese population about the association between XPG and gastric cancer risk .…”

Section: Introductionmentioning

confidence: 99%

SNPs of Excision Repair Cross Complementing Group 5 and Gastric Cancer Risk in Chinese Populations

Yang¹,

Zhang²,

Chen³

et al. 2012

Asian Pacific Journal of Cancer Prevention

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We conducted a case-control study to determine the association between several potential SNPs of excision repair cross complementing group 5 (XPG) and gastric cancer susceptibility, and roles of XPG polymorphisms in combination with H.pylori infection in determining risk of gastric cancer. In our study, we collected 337 newly diagnosed gastric cancer cases and 347 health controls. Three SNPs of XPG, rs2296147T>C, rs2094258C>T and rs873601G>A, were genotyped using the Taqman real-time PCR method with a 7900 HT sequence detector system. H. pylori infection was diagnosed by ELISA. By multivariate logistic regression analysis, the rs2296147 CC genotype was associated with a decreased risk of gastric cancer (OR=0.52, 95% CI=0.27-0.97), and rs2094258 TT was associated with elevated risk (OR=2.13, 95% CI=1.22-3.35). Positive H.pylori individuals with rs2094258 TT genotypes demonstrated increased risk of gastric cancer (OR=2.13, 95% CI=1.22-3.35), while rs2296147 CC was associated with lower risk among patients with negative H.pylori (OR=0.45, 95%CI=0.22-0.89). Our findings suggested that XPG polymorphisms might contribute to risk of gastric cancer among Chinese populations, but the effect needs to be further validated by larger sample size studies.

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Section: Introductionmentioning

confidence: 99%

SNPs of Excision Repair Cross Complementing Group 5 and Gastric Cancer Risk in Chinese Populations

Yang¹,

Zhang²,

Chen³

et al. 2012

Asian Pacific Journal of Cancer Prevention

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“…Moreover, recent year studies have established that the polymorphisms in DNA repair genes can either change protein coding or alter the levels of transcription or translation, consequently, which can reduce DNA repair capacity and induce genetic instability or carcinogenesis. Few studies have investigated the associations between XPC Lys939Gln and risk of CRC, and these findings were inconsistent (Hansen et al, 2007;Engin et al, 2010;Wu et al, 2011;Liu et al, 2012). Overall, the XPC Lys939Gln was found to be associated with CRC risk in two case-control studies (Wu et al, 2011;Liu et al, 2012) while others did not find any statistically significant associations (Hansen et al, 2007;Engin et al, 2010).…”

Section: Discussionmentioning

confidence: 97%

“…Few studies have investigated the associations between XPC Lys939Gln and risk of CRC, and these findings were inconsistent (Hansen et al, 2007;Engin et al, 2010;Wu et al, 2011;Liu et al, 2012). Overall, the XPC Lys939Gln was found to be associated with CRC risk in two case-control studies (Wu et al, 2011;Liu et al, 2012) while others did not find any statistically significant associations (Hansen et al, 2007;Engin et al, 2010). In this study, although there were no statistically significant association observed between XPC Lys939Gln polymorphism and CRC risk, it is worth to note that current data regarding XPC Lys939Gln polymorphism showed a tendency for a higher risk of developing CRC in heterozygous AC genotypes (P=0.0759) or AC+CC variants carriers (P=0.0903).…”

Section: Discussionmentioning

confidence: 99%

“…Previously studies have shown that polymorphisms of the NER pathway genes may alter the DNA repair capacity and thus could play an important role in carcinogenesis (Friedberg, 2001). Only few studies have investigated the association of Lys 939Gln polymorphism of XPC with CRC risk, and the findings were inconclusive (Hansen et al, 2007;Engin et al, 2010;Wu et al, 2011;Liu et al, 2012). Wu et al found that the XPC Lys939Gln CC genotype was associated with a significantly increased risk of CRC compared with the AA genotype (Wu et al, 2011).…”

Section: Introductionmentioning

confidence: 99%

“…Wu et al found that the XPC Lys939Gln CC genotype was associated with a significantly increased risk of CRC compared with the AA genotype (Wu et al, 2011). Similarly, Liu et al observed that individuals with at least one copy of the XPC Lys939Gln (AC or CC genotype) had an increased risk for CRC (Liu et al, 2012). However, in Denmark population, there are no significant association oberved between Lys939Gln and CRC risk, whereas they found a significant interaction between Lys939Gln and consumption of red meat, with a 3.7-fold increase in CRC risk per 100 g red meat intake per day among carriers of the homozygous variant, but virtually no effect of red meat intake among carriers of the wild type allele (Hansen et al, 2007).…”

Section: Introductionmentioning

confidence: 99%

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Associations of ABCB1 and XPC Genetic Polymorphisms with Susceptibility to Colorectal Cancer and Therapeutic Prognosis in a Chinese Population

Yue

Xie²,

Zhao³

et al. 2013

Asian Pacific Journal of Cancer Prevention

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Associations between ABCB1 and XPC genetic polymorphisms and risk of developing colorectal cancer (CRC) as well as clinical outcomes in CRCs with chemotherapy were investigated. A case-control study was performed on the ABCB1 C3435T, G2677T/A and XPC Lys939Gln polymorphisms in 428 CRC cases and 450 hospitalbased, age and sex frequency-matched controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assays. We observed that the ABCB1 3435CT or CC+CT variants were significantly linked with increasing risk of developing CRC (adjusted OR (95% CI): 1.814 (1.237-2.660), P=0.0022; adjusted OR (95% CI): 1.605 (1.117-2.306), P=0.0102, respectively). Moreover, the distribution frequency of XPC AC genotype or AC+CC genotypes also showed a tendency towards increasing the suscepbility for CRC (P=0.0759 and P=0.0903, respectively). Kaplan-Meier curves showed that the ABCB1 C3435T variant was associated with a tendency toward longer progression-free survival (PFS) (n=343, Log-rank test: P=0.063), and the G2677T/A variant genotypes (GT+TT+GA+AA) with a tendency for longer OS in postoperative oxaliplatin-based patients (n=343, Log-rank test: P=0.082). However, no correlation of the XPC Lys939Gln polymorphism was found with PFS and OS in patients with postoperative oxaliplatin-based chemotherapy (n=343). Our study indicated that ABCB1 polymorphisms might be candidate pharmacogenomic factors for the prediction of CRC susceptibility, but not for prognosis with oxaliplatin chemosensitivity in CRC patients.

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Associations of Lys939Gln and Ala499Val polymorphisms of theXPCgene with cancer susceptibility: A meta-analysis

Shi

Zhu

et al. 2013

Int. J. Cancer

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XPC polymorphisms may alter DNA repair capacity, thus leading to genetic instability and carcinogenesis. Numerous studies have investigated the associations of XPC Lys939Gln (rs2228001) and Ala499Val (rs2228000) polymorphisms with cancer susceptibility; however, the findings are inconclusive. We searched literature from MEDLINE and EMBASE for eligible publications that assessed the associations between these two polymorphisms and cancer risk. We also assessed genotype-mRNA expression correlation data from HapMap for rs2228001 and rs2228000 in normal cell lines derived from 270 subjects with different ethnicities. The final analysis included 62 published studies of 25,708 cases and 30,432 controls for the Lys939Gln and 34 studies with 14,877 cases and 17,888 controls for the Ala499Val. Overall, Lys939Gln was significantly associated with an increased overall cancer risk (Gln/Gln vs. Lys/Lys: OR 5 1.16, 95% CI 5 1.07 2 1.25, p < 0.001; recessive model: OR 5 1.14, 95% CI 5 1.06 2 1.22, p < 0.001; dominant model: OR 5 1.06, 95% CI 5 1.01 2 1.11, p 5 0.015 and Gln vs. Lys: OR 5 1.07, 95% CI 5 1.03 2 1.10, p < 0.001) and further stratifications showed an increased risk for bladder, lung and colorectal cancer, Asian populations and population-based studies. Likewise, Ala499Val was also significantly associated with an increased overall cancer risk (Val/Val vs. Ala/Ala: OR 5 1.21, 95% CI 5 1.07 2 1.36, p 5 0.003 and recessive model: OR 5 1.20, 95% CI 5 1.08 2 1.34, p 5 0.001) and further stratification showed an increased risk for breast and bladder cancer, particularly in Asian populations. Interestingly, significantly correlation between XPC genotypes and mRNA expression was found only for Asian populations as well. Despite some limitations, this meta-analysis established some solid statistical evidence for an association between XPC polymorphisms and cancer risk, which warrants further validation in single large studies.

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DNA repair genes XPC, XPG polymorphisms: Relation to the risk of colorectal carcinoma and therapeutic outcome with oxaliplatin‐based adjuvant chemotherapy

Cited by 35 publications

References 43 publications

SNPs of Excision Repair Cross Complementing Group 5 and Gastric Cancer Risk in Chinese Populations

SNPs of Excision Repair Cross Complementing Group 5 and Gastric Cancer Risk in Chinese Populations

Associations of ABCB1 and XPC Genetic Polymorphisms with Susceptibility to Colorectal Cancer and Therapeutic Prognosis in a Chinese Population

Associations of Lys939Gln and Ala499Val polymorphisms of theXPCgene with cancer susceptibility: A meta-analysis

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