Association between ERCC2 rs13181 polymorphism and ovarian cancer risk: an updated meta-analysis with 4024 subjects

Li, Jiena; Pan, Lei; Xia, Qing; Chu, Hongyan; Mu, HuiYing; Wan, Guo‐Xing

doi:10.1007/s00404-017-4443-4

Cited by 3 publications

(1 citation statement)

References 23 publications

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“…To date, only a limited number of studies have identified SNPs in DNA damage repair genes, delineating their implications in the risk [ 4 ], prognosis [ 5 ]and chemotherapy response [ 6 ] of ovarian cancer. Hence, the biological significance of SNPs of other genes in DDR pathway needs to be explored.…”

Section: Introductionmentioning

confidence: 99%

Functional genetic variants of GEN1 predict overall survival of Chinese epithelial ovarian cancer patients

Li,

Wu,

et al. 2024

J Transl Med

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Background Inherited variations in DNA double-strand break (DSB) repair pathway are known to influence ovarian cancer occurrence, progression and treatment response. Despite its significance, survival-associated genetic variants within the DSB pathway remain underexplored. Methods In the present study, we performed a two-phase analysis of 19,290 single-nucleotide polymorphisms (SNPs) in 199 genes in the DSB repair pathway from a genome-wide association study (GWAS) dataset and explored their associations with overall survival (OS) in 1039 Han Chinese epithelial ovarian carcinoma (EOC) patients. After utilizing multivariate Cox regression analysis with bayesian false-discovery probability for multiple test correction, significant genetic variations were identified and subsequently underwent functional prediction and validation. Results We discovered a significant association between poor overall survival and the functional variant GEN1 rs56070363 C > T (CT + TT vs. TT, adjusted hazard ratio (HR) = 2.50, P < 0.001). And the impact of GEN1 rs56070363 C > T on survival was attributed to its reduced binding affinity to hsa-miR-1287-5p and the resultant upregulation of GEN1 mRNA expression. Overexpression of GEN1 aggregated EOC cell proliferation, invasion and migration presumably by influencing the expression of immune inhibitory factors, thereby elevating the proportion of polymorphonuclear myeloid-derived suppressor cells (PMN-MDSCs) and then constructing an immunosuppressive tumor microenvironment. Conclusions In conclusion, GEN1 rs56070363 variant could serve as a potential predictive biomarker and chemotherapeutic target for improving the survival of EOC patients.

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Section: Introductionmentioning

confidence: 99%

Functional genetic variants of GEN1 predict overall survival of Chinese epithelial ovarian cancer patients

Li,

Wu,

et al. 2024

J Transl Med

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Association between XRCC3 rs861539 Polymorphism and the Risk of Ovarian Cancer: Meta‐Analysis and Trial Sequential Analysis

Jing

Liu

et al. 2022

BioMed Research International

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Background. Current studies on the relationship between XRCC3 rs861539 polymorphism and ovarian cancer risk have been inconsistent. Therefore, we performed a meta-analysis to explore their association. Methods. Six electronic databases (PubMed, Embase, Web of Science, Cochrane Library, China National Knowledge Infrastructure, and China Wanfang Database) were searched for relevant studies published before December 2021. Meta-analysis, subgroup analysis, sensitivity analysis, and publication bias analysis were performed using Stata software 16.0. Trial sequential analysis (TSA) was performed using TSA 0.9.5.10 Beta software. Results. A total of 12 studies were included in 9 literatures, comprising 4,634 cases of ovarian cancer and 7,381 controls. After Bonferroni correction, the meta-analysis showed an association between XRCC3 rs861539 polymorphism and ovarian cancer risk in the heterozygote model and the dominant model (GA vs. GG: OR = 0.88 , 95 % CI = 0.81 -0.96, P = 0.003 ; GG vs. GA+AA: OR = 0.89 , 95 % CI = 0.82 -0.96, P = 0.004 ). In an ethnically stratified subgroup analysis, XRCC3 rs861539 was shown to reduce the risk of ovarian cancer in Caucasian in the heterozygote model and the dominant model (GA vs. GG: OR = 0.88 , 95 % CI = 0.81 -0.96, P = 0.004 ; GG vs. GA+AA: OR = 0.88 , 95 % CI = 0.81 -0.96, P = 0.004 ). In the control source and detection method stratified subgroup analysis, hospital-based studies and PCR-RFLP-based studies were found to increase ovarian cancer risk (GG vs. AA: OR = 1.30 , 95 % CI = 1.05 -1.62, P = 0.016 ; GG vs. AA: OR = 1.31 , 95 % CI = 1.06 -1.62, P = 0.013 ). Conclusion. This meta-analysis showed a significant association between XRCC3 rs861539 polymorphism and ovarian cancer risk, especially in Caucasians. Large-scale multicenter case-control studies in more different regions will be needed in the future.

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The role of polymorphic variants of the ERCC2 excision repair gene in the pathogenesis of ovarian cancer in women of different ethnic origins

et al. 2022

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Malignant neoplasms of the ovaries are one of the most frequently diagnosed tumors of the female reproductive system and one of the leading causes of cancer death in women worldwide. Despite significant advances in the field of early diagnosis and treatment of the disease, the survival rate of patients with this form of oncopathology is still low, which dictates the need for further study of this problem. The aim of the work was to evaluate the role of polymorphic variants rs13181 and rs238406 of the ERCC2 gene in the development of hereditary and sporadic forms of ovarian cancer in women of different ethnicity from the Republic of Bashkortostan. The material for the study was DNA samples of women with sporadic forms of ovarian cancer (n=182), hereditary forms of ovarian cancer (n=65) and women without cancer at the time of blood sampling (n=292) of various ethnic origins. Genotyping was performed by polymerase chain reaction (PCR) followed by analysis of restriction fragment length polymorphism. As a result of the study, an association of the rs13181*C allele of the ERCC2 gene with the risk of developing hereditary and sporadic forms of ovarian cancer in women of Russian ethnicity was established. An association of the rs238406*GT genotype of the ERCC2 gene with the risk of developing sporadic forms of ovarian cancer was revealed. The data obtained indicate the involvement of the studied polymorphic variants in the pathogenesis of ovarian cancer in our region.

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Association between ERCC2 rs13181 polymorphism and ovarian cancer risk: an updated meta-analysis with 4024 subjects

Abstract: The present study suggests that the ERCC2 gene rs13181 polymorphism might be associated with increased risk of ovarian cancer.

Cited by 3 publications

References 23 publications

Functional genetic variants of GEN1 predict overall survival of Chinese epithelial ovarian cancer patients

Functional genetic variants of GEN1 predict overall survival of Chinese epithelial ovarian cancer patients

Association between XRCC3 rs861539 Polymorphism and the Risk of Ovarian Cancer: Meta‐Analysis and Trial Sequential Analysis

The role of polymorphic variants of the ERCC2 excision repair gene in the pathogenesis of ovarian cancer in women of different ethnic origins

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