A meta‐analysis of <scp>XPC</scp> Lys939Gln polymorphism and melanoma susceptibility

Jiang, Weimin; Zhang, H.; Chen, Q.W.; Xie, Shi-liang

doi:10.1111/jdv.13477

Cited by 3 publications

(3 citation statements)

References 22 publications

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“…Articles selected [2,7,10,14,[18][19][20][21][22][23] for qualitative assessment are presented in Table 1. After 504 abstracts screening, 13 full-text articles were assessed for eligibility, and 3 of them were excluded: one article was focused only on the association of XP with gastric cancer, one did not fit the topic and represented a limit of the online database search, one article had a control study design, so was excluded having low evidence level.…”

Section: Resultsmentioning

confidence: 99%

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Xeroderma Pigmentosum: A Genetic Condition Skin Cancer Correlated—A Systematic Review

Brambullo

Vindigni

et al. 2022

BioMed Research International

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Background. Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder of UV radiation-induced damage repair that is characterized by photosensitivity and a propensity for developing, among many others, skin cancers at an early age. This systematic review focused on the correlation between the clinical, pathological, and genetic aspects of XP and skin cancer. Methods. A systematic review was conducted through a literature search of online databases PubMed, Cochrane Library, SciELO, and Google Scholar. Search terms were “Xeroderma pigmentosum”, “XP”, “XPC”, “Nucleotide excision repair”, “NER”, “POLH”, “Dry pigmented skin”, and “UV sensitive syndrome” meshed with the terms “Skin cancer”, “Melanoma”, and “NMSC”. Results. After 504 abstracts screening, 13 full-text articles were assessed for eligibility, and 3 of them were excluded. Ten articles were selected for qualitative assessment. Conclusions. Patients with XP usually suffer shorter lives due to skin cancer and neurodegenerative disease. Deletion/alteration of a distinct gene allele can produce different types of cancer. The XPC and XP-E variants are more likely to have skin cancer than patients in other complement groups, and the most common cause of death for these patients is skin cancer (metastatic melanoma or invasive SCC). Still, aggressive preventative measures to minimize UV radiation exposure can retard the course of the disease and improve the quality of life.

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Section: Resultsmentioning

confidence: 99%

“…With specific regard to melanoma occurrence, Jiang et al [ 23 ] investigated the correlation with a single XPC polymorphism, but the study failed to prove a strong association and was based on unadjusted estimates for age, gender, and nationality, so compromising the quality of evidence.…”

Section: Discussionmentioning

confidence: 99%

Xeroderma Pigmentosum: A Genetic Condition Skin Cancer Correlated—A Systematic Review

Brambullo

Vindigni

et al. 2022

BioMed Research International

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“…In 2013, Zhou et al, in a meta-analysis of seven studies (with 3,971 cases and 5,873 controls) have reported that the XPC Lys939Gln polymorphism was not significantly associated with CMM risk under all five genetic models (29). Jiang et al, in a more recently published meta-analysis with eight studies of 4,631 cases and 5,111 controls have found also negative results (30). The current meta-analysis has a number of strengths when compared to the previous meta-analyses.…”

Section: Subgroupmentioning

confidence: 99%

Association of XPC Polymorphisms with Cutaneous Malignant Melanoma Risk: Evidence from a Meta-Analysis

Asadian

Niktabar

Ghelmani

et al. 2020

Acta Med. (Hradec Kralove, Czech Repub.)

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Background: A number of studies have reported that the xeroderma pigmentosum complementation group C (XPC) polymorphisms are associated with cutaneous malignant melanoma (CMM) susceptibility. But the results of those studies were inconsistent. Here, we performed a study to obtain a more conclusive result on the association of XPC polymorphisms with risk of CMM. Methods: The XPC Lys939Gln and Ala499Val polymorphisms were genotyped in 150 CMM cases and 150 controls by PCR-RFLP assay. Subsequently, all published relevant studies were identified through a comprehensive literature search in PubMed, Web of Science, and CNKI databases. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to estimate the strength of correlation. Results: There was no significant association between XPC Lys939Gln and Ala499Val polymorphisms and CMM risk in our population. A total of 15 case-control studies including ten studies with 5,990 cases and 7,697 controls on XPC Lys939Gln and five studies with 3,139 cases and 3,721 controls on XPC Ala499Val polymorphism were selected. Pooled data revealed that XPC Lys939Gln (C vs. A: OR = 1.108, 95% CI 1.008– 1.217; P = 0.033) and Ala499Val (C vs. A: OR = 0.918, 95% CI 0.850–0.992; p = 0.031; CC+CA vs. AA: OR = 0.904, 95% CI 0.819–0.997; p = 0.043) polymorphisms were significantly associated with an increased risk of CMM. Moreover, stratified analyses by ethnicity revealed that the XPC Ala499Val and Lys939Gln polymorphisms were significantly associated with risk of CMM in Caucasians and mixed populations, respectively. Conclusions: This meta-analysis result suggested that XPC Lys939Gln and Ala499Val polymorphisms were significantly associated with risk of CMM.

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Investigation of Polymorphisms in Global Genome Repair Genes in Patients With Ovarian Cancer in the Turkish Population

Barham,

Omotade,

Yılmaz

et al. 2024

Cancer Control

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Introduction Ovarian cancer (OC) poses significant challenges due to its high mortality rate, particularly in advanced stages where symptoms may not be evident. DNA repair mechanisms, including nucleotide excision repair (NER), are crucial in maintaining genomic stability and preventing cancer. This study focuses on exploring the role of two NER-related genes, Xeroderma Pigmentosum Complementation Group C (XPC) and DNA Damage Binding Protein 2 (DDB2), in OC susceptibility. Objectives This study aims to investigate the association between variations in two NER-related genes, XPC rs2228001 and DDB2 rs830083, among a cohort of Turkish individuals with OC and control subjects. Methods Genotyping of XPC rs2228001 and DDB2 rs830083 was performed on 103 OC patients and 104 control subjects from the Turkish population using the Fast Real-Time 7500 PCR platform from Applied Biosystems. Results Individuals with the homozygous AA genotype of XPC rs2228001 exhibited a reduced likelihood of developing OC (OR 0.511; 95% CI 0.261 - 1.003; P-value 0.049), whereas those with the CC variant faced an elevated risk (OR = 2.32, 95% CI = 1.75-3.08; P-value 0.035). The presence of the A allele was associated with decreased OC occurrence ( P-value = 0.035). Similarly, for DDB2 rs830083, individuals with the homozygous CG genotype had a diminished risk of OC ( P-value 0.036), compared to those with the GG polymorphism (OR 1.895; 95% CI 1.033 - 3.476; P-value 0.038). Furthermore, the presence of the C allele was associated with a 1.89-fold decrease in the likelihood of OC. Conclusion These findings shed light on the genetic factors influencing OC susceptibility, emphasizing the importance of DNA repair systems in disease. Further research in larger and more diverse populations is warranted to validate these findings, facilitating precise risk assessment, and potentially guiding tailored treatment strategies for OC patients.

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A meta‐analysis of XPC Lys939Gln polymorphism and melanoma susceptibility

Abstract: Our pooled data suggest that there was no evidence for a major role of XPC Lys939Gln polymorphism in the pathogenesis of melanoma.

Cited by 3 publications

References 22 publications

Xeroderma Pigmentosum: A Genetic Condition Skin Cancer Correlated—A Systematic Review

Xeroderma Pigmentosum: A Genetic Condition Skin Cancer Correlated—A Systematic Review

Association of XPC Polymorphisms with Cutaneous Malignant Melanoma Risk: Evidence from a Meta-Analysis

Investigation of Polymorphisms in Global Genome Repair Genes in Patients With Ovarian Cancer in the Turkish Population

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