Analysis of ERCC1 and ERCC2 gene variants in osteosarcoma, colorectal and breast cancer

Gómez-D́iaz, Benjamín; Ayala-Madrigal, María de la Luz; Gutiérrez-Angulo, Melva; Valle-Solís, Aura Erazo; Linares-González, Luis Miguel; González-Guzmán, Roberto; Cruz-Guillén, David; Cedeño-Garcidueñas, Ana Lilia; Canto, Patricia; López-Hernández, Luz Berenice

doi:10.3892/ol.2015.2894

Cited by 12 publications

(15 citation statements)

References 22 publications

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“…Our findings revealed an association of ERCC2 -rs1799793/AA genotype with increased risk of BC. These results are corroborated by previous studies in various populations, such as Russians, Mexicans, Chinese, Egyptian, and Taiwanese [ 17 , 30 – 33 ]. However, the results were not unanimous as other studies of this SNP failed to find positive correlation with BC, especially among Caucasians as well as North American, European sub-populations, Chinese, Portuguese, Poland and Australian [ 9 , 34 – 39 ].…”

Section: Discussionsupporting

confidence: 91%

“…It is well known that the DNA repair ability is an important determinant of the predisposition toward various malignancies [ 9 , 24 , 25 ]. There is increasing data supporting the hypothesis that genetic polymorphisms (SNPs) in DNA repair genes could lead to disorder in DNA repair machinery resulting in accumulation of mutations, and in turn could contribute to increased susceptibility to various types of cancers including BC [ 17 , 25 – 27 ]. In particular, the functional SNPs ERCC2 -rs1799793 and ERCC2 -rs13181 enrolled in our study have been previously associated with specific DNA defects, namely defective repair capacity of ultraviolet light-induced DNA damage [ 28 ].…”

Section: Discussionmentioning

confidence: 99%

“…The selected variants rs1799793 and rs13181 are linked to ERCC2 gene (Excision repair cross-complementation group 2) and rs1801131, rs1801133 polymorphisms to MTHFR gene (methylenetetrahydrofolate reductase). These genes are involved in the etiology of cancer through crucial cellular pathways including, DNA repair path ( ERCC2 ) [ 17 ], methylation and DNA synthesis ( MTHFR ) [ 18 ].…”

Section: Introductionmentioning

confidence: 99%

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Significant association between ERCC2 and MTHR polymorphisms and breast cancer susceptibility in Moroccan population: genotype and haplotype analysis in a case-control study

et al. 2018

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BackgroundGenetic determinants of breast cancer (BC) remained largely unknown in the majority of Moroccan patients. The purpose of this study was to explore the association of ERCC2 and MTHFR polymorphisms with genetic susceptibility to breast cancer in Moroccan population.MethodsWe genotyped ERCC2 polymorphisms (rs1799793 (G934A) and rs13181 (A2251C)) and MTHFR polymorphisms (rs1801133 (C677T) and rs1801131 (A1298C)) using TaqMan SNP Genotyping Assays. Genotypes were compared in 151 BC cases and 156 population-matched controls. Allelic, genotypic and haplotype associations with the risk and clinicopathological features of BC were assessed using logistic regression analyses.ResultsERCC2-rs1799793-AA genotype was associated with high risk of BC compared to wild type genotype (recessive model: OR: 2.90, 95% CI: 1.34–6.26, p = 0.0069) even after Bonferroni correction (p < 0,0125). MTHFR rs1801133-TT genotype was associated with increased risk of BC (recessive model, OR: 2.49, 95% CI: 1.17–5.29, p = 0.017) but the association turned insignificant after Bonferroni correction. For the rest of SNPs, no statistical associations to BC risk were detected.Significant association with clinical features was detected for MTHFR-rs1801133-TC genotype with early age at diagnosis and familial BC. Following Bonferroni correction, only association with familial BC remained significant. MTHFR-rs1801131-CC genotype was associated with sporadic BC. ERCC2-rs1799793-AA genotype correlated with ER+ and PR+ breast cancer. ERCC2-rs13181-CA genotype was significantly associated large tumors (T ≥ 3) in BC patients. None of these associations passed Bonferroni correction.Haplotype analysis showed that ERCC2 A-C haplotype was significantly associated with increased BC risk (OR: 3.71, 95% CI: 1.7–8.12, p = 0.0002 and p = 0.0008 before and after Bonferroni correction, respectively) and positive expression of ER and PR in BC patients. ERCC2 G-C haplotype was correlated with PR negative and larger tumor (T4). We did not find any MTHFR haplotypes associated with BC susceptibility. However, the less common haplotype MTHFR T-C was more frequent in young patients and in familial breast cancer, while MTHFR C-C haplotype was associated with sporadic BC form.ConclusionsOur findings are a first observation of association between ERCC2 SNPs and breast cancer in Moroccan population. The results suggested that ERCC2 and MTHFR polymorphisms may be reliable for assessing risk and prognosis of BC in Moroccan population.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Significant association between ERCC2 and MTHR polymorphisms and breast cancer susceptibility in Moroccan population: genotype and haplotype analysis in a case-control study

et al. 2018

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“…A total of 449 articles were reviewed, and eventually 86 articles with 38,848 cases and 48,928 controls met the inclusion criteria. Among these publications, there was 1 osteosarcoma [ 23 ], 1 hepatocellular cancer (HCC) [ 24 ], 3 oral cancer [ 25 – 27 ], 5 skin cancer [ 28 – 32 ], 5 colorectal cancer [ 23 , 33 – 36 ], 6 head and neck cancer [ 37 – 42 ], 6 esophageal cancer [ 43 – 48 ], 6 non-Hodgkin lymphoma [ 49 – 54 ], 6 prostate cancer [ 55 – 60 ], 8 gastric cancer [ 61 – 67 ], 12 bladder cancer [ 68 – 79 ], 14 lung cancer [ 70 , 80 – 92 ], and 15 breast cancer [ 23 , 32 , 93 – 105 ]. The detailed study selection process is shown in Figure 1 .…”

Section: Resultsmentioning

confidence: 99%

“…Wu et al indicated that the ERCC2 Asp312Asn polymorphism was not associated with the development of HCC [ 24 ]. Gomez-Diaz et al demonstrated no relationship between ERCC2 Asp312Asn polymorphism and osteosarcoma [ 23 ]. Interestingly, based on a study by Mahimkar et al this polymorphism was associated with an overall increase in chromosomal damage in oral cancer [ 25 ].…”

Section: Discussionmentioning

confidence: 99%

Association between the ERCC2 Asp312Asn polymorphism and risk of cancer

Xiao

Wen

et al. 2017

Oncotarget

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Cancer is the leading cause of death in economically developed countries and the second leading cause of death in developing countries. The relationship between genetic polymorphisms and the risk of cancers has been widely researched. Excision repair cross-complementing group 2 (ERCC2) gene plays important roles in the nucleotide excision repair pathway. There is contrasting evidence on the association between the ERCC2 Asp312Asn polymorphism and the risk of cancer. We conducted a comprehensive meta-analysis in order to assess the correlation between these factors. We searched the PubMed, EMBASE, Science Direct, Web of Science, and CNKI databases for studies published from January 1, 2005 to January 1, 2016. Finally, 86 articles with 38,848 cases and 48,928 controls were included in the analysis. The overall analysis suggested a significant association between the ERCC2 Asp312Asn polymorphism and cancer risk. Furthermore, control source, ethnicity, genotyping method, and cancer type were used for subgroup analysis. The result of a trial sequential analysis indicated that the cumulative evidence is adequate; hence, further trials were unnecessary in the overall analysis for homozygote comparison. In summary, our results suggested that ERCC2 Asp312Asn polymorphism is associated with increased cancer risk. A significantly increased cancer risk was observed in Asian populations, but not in Caucasian populations. Furthermore, the ERCC2 Asp312Asn polymorphism is associated with bladder, esophageal, and gastric cancers, but not with breast, head and neck, lung, prostate, and skin cancers, and non-Hodgkin lymphoma. Further multi-center, well-designed studies are required to validate our results.

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Association of excision repair cross‐complimentary group 1 gene polymorphisms with breast and ovarian cancer susceptibility

Yang

Bian

et al. 2019

J of Cellular Biochemistry

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The role of excision repair cross‐complimentary group 1 (ERCC1) gene polymorphisms in breast and ovarian cancer development has long been controversial and existing data were inconsistent. Here, we conducted a comprehensive meta‐analysis to better clarify the association. Case‐control studies published from December 2008 to November 2018 were assessed. The statistical analyses of the pooled odds ratios (ORs) and the corresponding 95% confidence intervals (CIs) were calculated. Fifteen articles with 24 case‐control studies and 3 ERCC1 polymorphisms were enrolled. A total of 20 923 participants including 9896 cases and 11 027 controls were analyzed. The results showed that C to T variation in the ERCC1 rs11615 (C/T) polymorphisms was correlated with breast cancer susceptibility (T vs C: OR = 1.19, 95% CI = 1.02‐1.38; TT + CT vs CC: OR = 1.24, 95% CI = 1.12‐1.36). ERCC1 rs3212986 (C/A) polymorphisms posed an increased risk for breast and ovarian cancer as whole (A vs C: OR = 1.12, 95% CI = 1.01‐1.25; AA + CA vs CC: OR = 1.11, 95% CI = 1.02‐1.22), and presented especially higher risk for ovarian cancer (A vs C: OR = 1.31, 95% CI = 1.05‐1.63; AA vs CA + CC: OR = 1.66, 95% CI = 1.12‐2.47; AA vs CC: OR = 1.72, 95% CI = 1.12‐2.64). Meanwhile, neither overall group analyses nor stratified analyses displayed any association of ERCC1 rs2298881 (A/C) polymorphisms in breast and ovarian cancer susceptibility. This meta‐analysis suggested that ERCC1 rs11615 (C/T) polymorphisms were associated with breast cancer susceptibility and rs3212986 (C/A) polymorphisms were especially correlated with ovarian cancer risk. More case‐control studies with well‐adjusted data and diverse populations are essential for validation of our conclusion.

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Analysis of ERCC1 and ERCC2 gene variants in osteosarcoma, colorectal and breast cancer

Cited by 12 publications

References 22 publications

Significant association between ERCC2 and MTHR polymorphisms and breast cancer susceptibility in Moroccan population: genotype and haplotype analysis in a case-control study

Significant association between ERCC2 and MTHR polymorphisms and breast cancer susceptibility in Moroccan population: genotype and haplotype analysis in a case-control study

Association between the ERCC2 Asp312Asn polymorphism and risk of cancer

Association of excision repair cross‐complimentary group 1 gene polymorphisms with breast and ovarian cancer susceptibility

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