Genetic polymorphisms in DNA repair and oxidative stress pathways associated with malignant melanoma susceptibility

Ibarrola‐Villava, Maider; Peña‐Chilet, María; Fernández, Lilia; Avilés, José Antonio Fernández; Mayor, Matías; Martín-González, Manuel; Gómez‐Fernández, Cristina; Casado, Beatriz; Lázaro, Pablo; Lluch, Aña; Benı́tez, Javier; Lozoya, Rafael; Boldo, E.; Pizarro, Ángel; Martínez-Cadenas, Conrado; Ribas, Gloría

doi:10.1016/j.ejca.2011.05.011

Cited by 45 publications

(61 citation statements)

References 36 publications

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“…Many molecular epidemiological studies have been performed to evaluate the association between EXO1 Glu589Lys polymorphism and cancer risk. However, the results were generally inconsistent (Zienolddiny et al, 2006;Jin et al, 2008;Hsu et al, 2008;Chang et al, 2008;Bau et al, 2009;Tsai et al, 2009;Wang et al, 2009;Ibarrola-Villava et al, 2011;Luo et al, 2012;Bayram et al, 2012). These inconsistent results are possibly due to a small effect of the EXO1 Glu589Lys polymorphism on cancer risk or the relatively low statistical power of the published studies.…”

Section: Discussionmentioning

confidence: 48%

“…To date, a few molecular epidemiological studies have investigated the association between the EXO1 Glu589Lys polymorphism and the cancer risk including lung cancer (Zienolddiny et al, 2006;Jin et al, 2008;Hsu et al, 2008), glioma (Chang et al, 2008), breast cancer , gastric cancer (Bau et al, 2009), oral cancer , melanoma (Ibarrola-Villava et al, 2011), cervical (Luo et al, 2012), hepatocellular cancer (Bayram et al, 2012). However, no consistent conclusion has been drawn.…”

Section: Research Articlementioning

confidence: 99%

“…The study selection process is shown in Figure 1. A total of 10 case-control studies including 4391 cases and 4339 controls were analyzed in this metaanalysis (Zienolddiny et al, 2006;Chang et al, 2008;Hsu et al, 2008;Jin et al, 2008;Wang et al, 2009;Bau et al, 2009;Tsai et al, 2009;Ibarrola-Villava et al, 2011;Luo et al, 2012;Bayram et al, 2012). The characteristics of Exonuclease 1 Glu589Lys Gene Polymorphism and Cancer Susceptibility: Evidence Based on a Meta-Analysis selected studies are summarized in Table 1.…”

Section: Characteristics Of Eligible Studiesmentioning

confidence: 99%

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The Exonuclease 1 Glu589Lys Gene Polymorphism and Cancer Susceptibility: Evidence Based on a Meta-analysis

Bayram

2014

Asian Pacific Journal of Cancer Prevention

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Background: Published studies on the association between the exonuclease 1 (EXO1) Glu589Lys polymorphism and cancer susceptibility have yielded conflicting results. Thus, a meta-analysis of published studies was performed to assess the possible association. Materials and Methods: All eligible case-control studies published up to January 2013 on the association between the EXO1 Glu589Lys polymorphism and cancer susceptibility were identified by searching PubMed, Web of Science, Science Direct and hand search. Either fixed-effect or random-effect models were used to calculate pooled odds ratios (ORs) with 95% confidence intervals (CIs) using the Comprehensive Meta-Analysis software version 2.2. Results: A total of 4,391 cancer cases and 4,339 controls from 10 studies were included. Overall, no significant association between the EXO1 Glu589Lys polymorphism and cancer susceptibility was observed in either genetic model. However; in subgroup analyses by cancer type, a significant association between EXO1 Glu589Lys and lung cancer risk was found (Lys

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Section: Discussionmentioning

confidence: 48%

Section: Research Articlementioning

confidence: 99%

Section: Characteristics Of Eligible Studiesmentioning

confidence: 99%

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The Exonuclease 1 Glu589Lys Gene Polymorphism and Cancer Susceptibility: Evidence Based on a Meta-analysis

Bayram

2014

Asian Pacific Journal of Cancer Prevention

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“…It is possible that the inherited genetic variants, associated with the risk of melanoma and host-related melanoma traits may serve as markers of disease prognosis; however, their prognostic potential has never been systematically investigated. Unlike most of the previous studies [11-17,29,30] which focused on a limited selection of genetic variants in candidate pathways, our scan has examined a comprehensive panel of 108 established genetic variants identified from recent GWAS on melanoma risk and melanoma host-related traits. Also, in contrast to many prior studies, the prospectively annotated population of more than 900 melanoma patients with detailed clinical information in our study allowed the assessment of both recurrence and overall survival, stratified by important clinicopathological characteristics.…”

Section: Discussionmentioning

confidence: 99%

Melanoma risk loci as determinants of melanoma recurrence and survival

et al. 2013

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BackgroundSteadily high melanoma mortality rates urge for the availability of novel biomarkers with a more personalized ability to predict melanoma clinical outcomes. Germline risk variants are promising candidates for this purpose; however, their prognostic potential in melanoma has never been systematically tested.MethodsWe examined the effect of 108 melanoma susceptibility single nucleotide polymorphisms (SNPs), associated in recent GWAS with melanoma and melanoma-related phenotypes, on recurrence-free survival (RFS) and overall survival (OS), in 891 prospectively accrued melanoma patients. Cox proportional hazards models (Cox PH) were used to test the associations between 108 melanoma risk SNPs and RFS and OS adjusted by age at diagnosis, gender, tumor stage, histological subtype and other primary tumor characteristics.ResultsWe identified significant associations for rs7538876 (RCC2) with RFS (HR = 1.48, 95% CI = 1.20-1.83, p = 0.0005) and rs9960018 (DLGAP1) with both RFS and OS (HR = 1.43, 95% CI = 1.07-1.91, p = 0.01, HR = 1.52, 95% CI = 1.09-2.12, p = 0.01, respectively) using multivariable Cox PH models. In addition, we developed a logistic regression model that incorporates rs7538876, rs9960018, primary tumor histological type and stage at diagnosis that has an improved discriminatory ability to classify 3-year recurrence (AUC = 82%) compared to histological type and stage alone (AUC = 78%).ConclusionsWe identified associations between melanoma risk variants and melanoma outcomes. The significant associations observed for rs7538876 and rs9960018 suggest a biological implication of these loci in melanoma progression. The observed predictive patterns of associated variants with clinical end-points suggest for the first time the potential for utilization of genetic risk markers in melanoma prognostication.

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“…Both breast [12, 13] and prostate [14, 15] cancer are reported to be linked to oxidative stress. Studies examining this hypothesis in specific candidate genes have been conducted in the Nurses' Health Study [16, 17, 18] with particular focus on gene-by-gene and gene-by-environment interactions related to ROS exposure.…”

Section: Introductionmentioning

confidence: 99%

Factors associated with oxidative stress and cancer risk in the Breast and Prostate Cancer Cohort Consortium

Blein

Berndt

Joshi

et al. 2014

Free Radical Research

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Both endogenous factors (genomic variations) and exogenous factors (environmental exposures, lifestyle) impact the balance of reactive oxygen species (ROS). Variants of the ND3 (rs2853826; G10398A) gene of the mitochondrial genome, manganese superoxide dismutase (MnSOD; rs4880 Val16Ala) and glutathione peroxidase (GPX-1; rs1050450 Pro198Leu) are purported to have functional effects on regulation of ROS balance. In this study, we examined associations of breast and prostate cancer risk and survival with these variants, and interactions between rs4880 - rs1050450 and alcohol consumption - rs2853826. Nested case-control studies were conducted in the Breast and Prostate Cancer Cohort Consortium (BPC3), consisting of nine cohorts. The analyses included over 10726 post-menopausal breast and 7532 prostate cancer cases with matched controls. Logistic regression models were used to evaluate associations with risk, and proportional hazard models were used for survival outcomes. We did not observe significant interactions between polymorphisms in MnSOD and GPX-1, or between mitochondrial polymorphisms and alcohol intake and risk of either breast (p-interaction of 0.34 and 0.98 respectively) or prostate cancer (p-interaction of 0.49 and 0.50 respectively). We observed a weak inverse association between prostate cancer risk and GPX-1 Leu198Leu carriers (OR 0.87, 95% CI 0.79 – 0.97, p = 0.01). Overall survival among women with breast cancer was inversely associated with G10398 carriers who consumed alcohol (HR 0.66 95% CI 0.49 – 0.88). Given the high power in our study, it is unlikely that interactions tested have more than moderate effects on breast or prostate cancer risk. Observed associations need both further epidemiological and biological confirmation.

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Genetic polymorphisms in DNA repair and oxidative stress pathways associated with malignant melanoma susceptibility

Cited by 45 publications

References 36 publications

The Exonuclease 1 Glu589Lys Gene Polymorphism and Cancer Susceptibility: Evidence Based on a Meta-analysis

The Exonuclease 1 Glu589Lys Gene Polymorphism and Cancer Susceptibility: Evidence Based on a Meta-analysis

Melanoma risk loci as determinants of melanoma recurrence and survival

Factors associated with oxidative stress and cancer risk in the Breast and Prostate Cancer Cohort Consortium

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