<i>XRCC1</i>Arg399Gln Gene Polymorphism and Hepatocellular Carcinoma Risk in the Italian Population

Santonocito, Concetta; Scapaticci, Margherita; Nedovic, Bojan; Annicchiarico, Eleonora Brigida; Guarino, Donatella; Leoncini, Emanuele; Boccia, Stefania; Gasbarrini, Antonio; Capoluongo, Ettore

doi:10.5301/jbm.5000241

Cited by 10 publications

(7 citation statements)

References 39 publications

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“…BER mechanism involves the tightly coordinated function of four kind of enzymes that correct single base modifications that do not distort DNA helix (glycosylase, apurinic/apyrimidinic endonuclease –APE1–, polymerase, and ligase) [ 73 ]. The association of the rs25487 polymorphism of X-ray repair cross-complementing protein 1 (XRCC1), one of the main factors of BER mechanism, with the risk of HCC is well known [ 82 ]. Moreover, patients with the wild-type genotype (GG) receiving TACE containing a platinum derivative had a worse prognosis than patients carrying AA or GA genotypes [ 64 ].…”

Section: Dna Repairing (Moc-4)mentioning

confidence: 99%

Molecular Bases of Drug Resistance in Hepatocellular Carcinoma

Marin

Macı́as

Monte

et al. 2020

Cancers

133

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The poor outcome of patients with non-surgically removable advanced hepatocellular carcinoma (HCC), the most frequent type of primary liver cancer, is mainly due to the high refractoriness of this aggressive tumor to classical chemotherapy. Novel pharmacological approaches based on the use of inhibitors of tyrosine kinases (TKIs), mainly sorafenib and regorafenib, have provided only a modest prolongation of the overall survival in these HCC patients. The present review is an update of the available information regarding our understanding of the molecular bases of mechanisms of chemoresistance (MOC) with a significant impact on the response of HCC to existing pharmacological tools, which include classical chemotherapeutic agents, TKIs and novel immune-sensitizing strategies. Many of the more than one hundred genes involved in seven MOC have been identified as potential biomarkers to predict the failure of treatment, as well as druggable targets to develop novel strategies aimed at increasing the sensitivity of HCC to pharmacological treatments.

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Section: Dna Repairing (Moc-4)mentioning

confidence: 99%

Molecular Bases of Drug Resistance in Hepatocellular Carcinoma

Marin

Macı́as

Monte

et al. 2020

Cancers

133

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“…Likewise, in another study done among 100 HCC patients recruited from the Capital of Egypt, the authors identified that XRCC1 (rs25487*399Gln) allele revealed a statistically significant with an elevated risk of HCC ( p = 0.004) 13 . Furthermore, other reports confirmed the contribution of the XRCC1 (rs25487*p.Gln399Arg) variant with the elevated risk of HCC like those among Italian, 48 Chinese, 49 and Pakistani 50 subjects. However, we encountered two studies that confirmed no significant association of the XRCC1 (rs25487*p.Gln399Arg) variant with the susceptibility of HCC like those among Polish, 25 and French 51 subjects.…”

Section: Discussionmentioning

confidence: 94%

Genetic variants of APEX1 p.Asp148Glu and XRCC1 p.Gln399Arg with the susceptibility of hepatocellular carcinoma

Saad

Abdel-Megied

Elbaz

et al. 2021

Journal of Medical Virology

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The DNA repair genes have a crucial function in the base excision repair (BER) mechanism among different cancerous disorders, particularly hepatocellular carcinoma (HCC). The foremost objective of this study is to explore the association of genetic variants of the APEX1 p.Asp148Glu and the XRCC1 p.Gln399Arg with the susceptibility of HCC and to identify the computational bioinformatics frameworks of these missense variants. A total of 250 participants were enrolled in this study, including 150 HCC patients and 100 cancer-free controls. The genomic DNA was characterized and genotyped by applying the PCR-CTPP method. The frequency of the APEX1 (rs1130409*Glu) allele was statistically significant with increased risk of HCC (OR = 1.66, 95% CI = 1.12-2.45), while the XRCC1 (rs25487*Gln) allele conferred a protection against the progression of HCC (OR = 0.64, 95% CI = 0.42-0.96).Furthermore, HCC patients carrying the APEX1 p.Asp148Glu and the XRCC1 p.Gln399Arg variants indicated no significant difference with the clinical, and laboratory parameters (p > .05). Our findings confirmed that the APEX1 p.Asp148Glu variant was associated with increased risk of HCC, while the XRCC1 p.Gln399Arg variant revealed protection against the development of HCC.

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“…After the full-text assessment, 17 articles were excluded for reviews and editorials and 8 articles were excluded for lack of detailed genotype distribution data, finally, 32 articles were included in qualitative and quantitative synthesis. 4,8,[10][11][12][13] In the 32 included articles, 24 studies including 4106 HCC patients and 4295 controls were about the XRCC1 rs25487 polymorphism, 9 studies concerning 1355 HCC patients and 1376 controls were about the XRCC1 rs25489 polymorphism and 11 studies with 2067 HCC patients and 2183 controls were about the XRCC1 rs1799782 polymorphism. The summarized basic information of the 32 included studies, involving first author, publication year, region, race, genotyping method, sample size, the genotype distribution in case and control groups, quality score and P value for HWE, are presented in Table 1.…”

Section: Characteristics Of the Included Studiesmentioning

confidence: 99%

New sights on the associations between the XRCC1 gene polymorphisms and hepatocellular carcinoma susceptibility

Cai

Liu

et al. 2019

J of Cellular Biochemistry

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Studies investigating the relationships between the polymorphisms in the X‐ray repair cross complementing 1 (XRCC1) gene and the susceptibility of hepatocellular carcinoma (HCC) remained controversial, therefore, we assessed this associations by metaanalysis and trial sequential analysis (TSA). PubMed, Embase, Google Scholar, Chinese National Knowledge Infrastructure and Baidu Scholar were comprehensively screened to retrieve relevant studies up to May 20, 2019. A total of 32 studies was included. Significant associations were discovered in the overall and subgroup analysis in these three polymorphisms. Interestingly, the decreased risk of HCC was detected in the Indians for the rs24587 polymorphism. TSA indicated the required information size for the rs25487 polymorphism were reached, but for the rs25489 and rs1799782 polymorphisms, more well‐designed trials were required. Sensitivity analysis implied our results were stable; no publication bias was observed in the rs25487 and rs1799782 polymorphisms. The bioinformatic analysis indicate that the rs1799782 polymorphism is probably damaging and has an influence on the XRCC1 protein function. Our study indicated that the XRCC1 rs25487 was a risk factor for the susceptibility of HCC, which was verified by the TSA. In addition, the rs25489 and rs1799782 polymorphisms were associated with increased risk of HCC. In the subgroup analysis, increased risks were detected in some subgroups (in accordance with Hardy‐Weinberg equilibrium, Chinese groups, Mongoloid subgroup, polymerase chain reaction‐restriction fragment length polymorphisms and more than 300 subgroups), moreover, decreased HCC risk of the rs25487 polymorphism was firstly observed, which required further studies to verify.

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XRCC1Arg399Gln Gene Polymorphism and Hepatocellular Carcinoma Risk in the Italian Population

Abstract: To our knowledge, this is the first study reporting an association between BER SNP and HCC risk in a population of central-southern Italy.

Cited by 10 publications

References 39 publications

Molecular Bases of Drug Resistance in Hepatocellular Carcinoma

Molecular Bases of Drug Resistance in Hepatocellular Carcinoma

Genetic variants of APEX1 p.Asp148Glu and XRCC1 p.Gln399Arg with the susceptibility of hepatocellular carcinoma

New sights on the associations between the XRCC1 gene polymorphisms and hepatocellular carcinoma susceptibility

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