The associations of the X-ray repair cross complementing group 1 (XRCC1) gene single nucleotide polymorphisms (SNPs) Arg194Trp, Arg280His, Arg399Gln with the risk of gliomas have been studied recently, but contradictions exist whether the XRCC1 SNPs were a risk factor. We examined these associations by performing a meta-analyse. Nine studies tested the associations between XRCC1 SNPs and gliomas were retrieved. Overall odds ratios (ORs) and corresponding 95 % confidence intervals were estimated using genetic models. Heterogeneity and publication bias were evaluated. The pooled OR for Arg194Trp TT versus CC were significant, which was 2.208 (95 % CI: 1.099, 4.435; P = 0.026), but it was non-significant after removal of the studies which deviated from the Hardy-Weinberg equilibrium (HWE). The pooled OR for Arg399Gln AA+GA versus GG of genotype methods subgroup and the low study appraisal score subgroup were significant in the stratification analysis, but the meta-regression results were non-significance. No significant associations were found between the Arg280His SNPs and gliomas' risk. There was no evidence of publication bias. We conclude that SNPs in XRCC1 are not associated with the risk of gliomas. We should do more work on the relevant variants like those in TERT, RTEL1, EGFR, CDKN2A, CCDC26, and PHLDB1 and their products rather than the XRCC1. More GWAS will also need to involve sufficiently larger study populations along with analysis of tumor or gender subtypes in order to assess these risks.

Recent studies on the association between glutathione S-transferase T1 (GSTT1) polymorphism and risk of esophageal cancer showed inconclusive results. To clarify this possible association, we conducted a meta-analysis of published studies. Data were collected from the following electronic databases: Pubmed, Embase, and Chinese Biomedical Database (CBM). The odds ratio (OR) and its 95 % confidence interval (95 % CI) was used to assess the strength of this association. We summarized the data on the association between GSTT1 null genotype and risk of esophageal cancer in the overall population, and performed subgroup analyses by ethnicity. Finally, a total of 24 independent studies including a total of 7,801 subjects (2,965 cases and 4,836 controls) were eligible for meta-analysis. In the overall analysis, there was no significant association between GSTT1 null genotype and esophageal cancer risk (OR = 1.15, 95 % CI 0.99-1.33, P = 0.067). However, meta-analysis of adjusted ORs showed a significant association between GSTT1 null genotype and increased risk of esophageal cancer (OR = 1.30, 95 % CI 1.08-1.56, P = 0.005). Subgroup analyses by ethnicity showed there was an obvious association between GSTT1 null genotype and increased risk of esophageal cancer in East Asians (OR = 1.24, 95 % CI 1.10-1.39, P < 0.001), but not in Caucasians (OR = 0.89, 95 % CI 0.71-1.11, P = 0.300). There was no obvious risk of publication bias in this meta-analysis (Egger's test, P = 0.784). This meta-analysis demonstrates that GSTT1 null genotype is independently associated with increased risk of esophageal cancer, and a race-specific effect may exist in this association.

The association between methylenetetrahydrofolate reductase (MTHFR) 677C>T polymorphism and lung cancer risk has been studied in various populations with conflicting results. The aim of this study was to assess the association strength by a meta-analysis of published studies.

Single nucleotide polymorphisms (SNPs) occurred in pre-microRNAs or targets of microRNAs (miRs) may contribute to cancer risks. Since 2007, many studies have investigated the association between common SNPs located on hsa-miR-499 (rs3746444) and cancer risks; however, the results were inconclusive.

MicroRNAs (miRNAs) are small RNA molecules that regulate the expression of corresponding messenger RNAs (mRNAs). Variations in the level of expression of distinct miRNAs have been observed in the genesis, progression and prognosis of multiple human malignancies. The present study was aimed to investigate the association between four highly studied miRNA polymorphisms (mir-146a rs2910164, mir-196a2 rs11614913, mir-149 rs2292832 and mir-499 rs3746444) and cancer risk by using a two-sided meta-analytic approach.

Some common genetic variants of TERT-CLPTM1L gene, which encode key protein subunits of telomerase, have been suggested to play a crucial role in tumorigenesis. The TERT-CLPTM1L polymorphism rs401681 was of special interest for cancers risk but with inconclusive results.

The -93G>A (rs1800734) polymorphism located in the promoter of mismatch repair gene, MLH1, has been identified as a low-penetrance variant for cancer risk. Many published studies have evaluated the association between the MLH1 -93G>A polymorphism and colorectal cancer (CRC) risk. However, the results remain conflicting rather than conclusive.

The prognostic and diagnostic value of microRNA (miRNA) expression aberrations in lung cancer has been studied intensely in recent years. However, due to the application of different technological platforms and small sample size, the miRNA expression profiling efforts have led to inconsistent results between the studies. We performed a comprehensive meta-analysis of 20 published miRNA expression studies in lung cancer, including a total of 598 tumor and 528 non-cancerous control samples. Using a recently published robust rank aggregation method, we identified a statistically significant miRNA meta-signature of seven upregulated (miR-21, miR-210, miR-182, miR-31, miR-200b, miR-205 and miR-183) and eight downregulated (miR-126-3p, miR-30a, miR-30d, miR-486-5p, miR-451a, miR-126-5p, miR-143 and miR-145) miRNAs. We conducted a gene set enrichment analysis to identify pathways that are most strongly affected by altered expression of these miRNAs. We found that meta-signature miRNAs cooperatively target functionally related and biologically relevant genes in signaling and developmental pathways. We have shown that such meta-analysis approach is suitable and effective solution for identification of statistically significant miRNA meta-signature by combining several miRNA expression studies. This method allows the analysis of data produced by different technological platforms that cannot be otherwise directly compared or in the case when raw data are unavailable.

Inconsistency of reported associations between the Pro919Ser polymorphism in the BRCA1 interacting protein 1 (BRIP1) gene and breast cancer prompted us to undertake a meta-analysis. Although investigated by fewer studies, we have also studied the risk associated with the two additional BRIP1 polymorphisms, C47G and G64A, and breast cancer riskWe conducted searches of the published literature in MEDLINE through PubMed up to October 2012. Individual data on 5,122 cases and 5,735 controls from eight published case-control studies were evaluated for the Pro919Ser polymorphism. Accordingly, C47G and G64A polymorphisms were studied in 1,539 cases and 1,183 controls, and 667 and 782, respectively.In the overall analysis, association was lacking between the Pro919Ser polymorphism and breast cancer risk (odds ratio [OR] 0.98-1.02), materially unchanged when confined to subjects of European ancestry (OR 0.96-1.03) or even in the high-powered studies (OR 0.97-1.03). In the menopausal subgroups, premenopausal women followed the null pattern (OR 0.94-0.98) for the Pro and Ser allele contrasts, but not for the Pro-Ser genotype comparison where significant increased risk was observed (OR 1.39, P = 0.002). The postmenopausal women (>50 years) exhibited a range of pooled effects from protection (OR 0.83, P = 0.11) in the Pro-Ser genotype to slightly increased risk (OR 1.12-1.16, P = 0.28-0.42) in the Pro and Ser allele comparisons. The G64A polymorphism effects were essentially null (OR 0.90-0.98), but C47G was found to confer non-significantly increased risk under all genetic models (OR 1.27-1.40).Upon conclusion, overall summary estimates imply no associations but suggest susceptibility among carriers of the C47G polymorphism and Pro-Ser genotype in premenopausal women. The premenopausal findings and variable outcomes in postmenopausal women require more studies for confirmation.

Bloom's syndrome is a rare autosomal recessive chromosomal instability disorder with a high incidence of various types of neoplasia, including breast cancer. Whether monoallelic BLM mutations predispose to breast cancer has been a long-standing question. A nonsense mutation, p.Q548X, has recently been associated with an increased risk for breast cancer in a Russian case-control study. In the present work, we have investigated the prevalence of this Slavic BLM founder mutation in a total of 3,188 breast cancer cases and 2,458 controls from Bashkortostan, Belarus, Ukraine, and Kazakhstan. The p.Q548X allele was most frequent in Russian patients (0.8 %) but was also prevalent in Byelorussian and Ukrainian patients (0.5 and 0.6 %, respectively), whereas it was absent in Altaic or other non-European subpopulations. In a combined analysis of our four case-control series, the p.Q548X mutation was significantly associated with breast cancer (Mantel-Haenszel OR 5.1, 95 % CI 1.2; 21.9, p = 0.03). A meta-analysis with the previous study from the St. Petersburg area corroborates the association (OR 5.7, 95 % CI 2.0; 15.9, p = 3.7 × 10(-4)). A meta-analysis for all published truncating mutations further supports the association of BLM with breast cancer, with an estimated two- to five-fold increase in risk (OR 3.3, 95 %CI 1.9; 5.6, p = 1.9 × 10(-5)). Altogether, these data indicate that BLM is not only a gene for Bloom's syndrome but also might represent a breast cancer susceptibility gene.

The aim of this study was to summarize the global predicting role of hormone receptors for survival in ovarian cancer.

The association between MTHFR Ala222Val polymorphism and breast cancer (BC) risk are inconclusive. To derive a more precise estimation of the relationship, a systematic review and meta-analysis was performed.

Surface-enhanced laser desorption/ionisation time-of-flight mass spectrometry (SELDI-TOF-MS) has been approved for identifying biomarkers and diagnosing many diseases such as lymphomas. It is arguable whether the SELDI technique has its value of diagnostic accuracy for lymphomas. The purpose of our study is to determine the diagnostic accuracy of SELDI-TOF-MS for diagnosing lymphomas. The Cochrane Central Register of Controlled Trials, MEDLINE, Pub Med, EMBASE, the Chinese Biomedical Literature Database, the China Academic Journals Full-text Database, and the Chinese Scientific Journals Database were searched systematically for potential studies. Reference lists of included studies and review articles were also reviewed. All studies that reported data on patients with a confirmed diagnosis of lymphomas and that compared the measurement of SELDI-TOF-MS with pathology standard were considered for inclusion. Eleven studies were included in the systematic review. The ranges of the diagnostic value of SELDI-TOF-MS for lymphoma were as follows: sensitivity (SEN) was 0.69-0.96; specificity (SPE) was 0.70-1.00; positive likelihood ratio (PLR) was 2.99-96.09; negative likelihood ratio (NLR) was 0.04-0.35; and diagnostic odds ratio (DOR) was 18.13-1250.71, respectively. Further, we analysed serum samples as a subgroup, and the pooled endpoints were as follows: pooled SEN was 0.89 (0.85-0.91); pooled SPE was 0.91 (0.88-0.93); pooled PLR was 12.35 (5.36-28.44); pooled NLR was 0.13 (0.09-0.20); and pooled DOR was 101.04 (39.57-258.04), respectively. SELDI-TOF-MS showed high accuracy in identifying lymphoma and could be a useful screening tool for diagnosing lymphoma patients.

To investigate the association of genetic polymorphisms of alcohol dehydrogenase-1B (ADH1B) and aldehyde dehydrogenase-2 (ALDH-2) with risk of esophageal cancer (EC) in China.

We investigated a possible association between CASP-10 gene polymorphisms and susceptibility to cancer through a meta-analysis. Eight studies with a total of 29,936 cancer cases and 34,041 healthy controls were included. Meta-analysis results showed that the rs13006529 T carrier was significantly associated with increased cancer risk (OR = 1.17, 95%CI = 1.01-1.36, P = 0.03). However, rs3900115 and rs13010627 showed no association with cancer susceptibility (all P > 0.05). In the subgroup analysis by cancer type, we found that the rs13006529 T carrier was a risk factor for breast cancer (OR = 1.17, 95%CI = 1.01-1.36, P = 0.03). Similarly, no association was found between CASP-10 polymorphisms and susceptibility to lymphoma, myeloma, melanoma, or lung cancer (all P > 0.05). This meta-analysis suggests that the rs13006529 T carrier in the CASP-10 gene might be a risk factor for cancer susceptibility, especially for breast cancer.

Association between the XRCC1 Arg399Gln polymorphism and susceptibility to gastric cancer has been investigated; overall, the results have been inconclusive. We made a meta-analysis of 13 case-control studies, including 3278 cases and 6243 controls. Crude odds ratios (OR) with 95% confidence intervals (95%CI) were used to assess this possible association. We found no evidence of a significant association between the XRCC1 Arg399Gln polymorphism and gastric cancer risk (in the additive inheritance model, OR = 0.986, 95%CI = 0.831-1.156, in the dominant inheritance model, OR = 1.044, 95%CI = 0.890-1.224 and in the recessive inheritance model, OR = 0.975, 95%CI = 0.894-1.063). We conclude that the XRCC1 Arg399Gln polymorphism is not a risk factor for developing gastric cancer.

To study the association of genetic polymorphism of glutathione S-transferase (GSTM1 and GSTT1) with susceptibility to primary liver cancer in Chinese.

To explore the association between polymorphisms in the DNA repair gene, xeroderma pigmentosum group D (XPD), and development of hepatocellular carcinoma (HCC) in the Chinese population by performing a systematic review of the previously published clinical data.

Cytochrome P450 2A6 (CYP2A6) is an enzyme responsible for the metabolism of nicotine and some tobacco-specific carcinogens (such as N-nitrosamines). CYP2A6 genetic variations are associated with the activity of the CYP2A6 enzyme, which affects smoking behavior and the rate at which some tobacco-specific carcinogens are metabolized, which in turn determines the incidence of lung cancer. Several studies have investigated the relationship between CYP2A6 genotypes and lung cancer; however, the results are controversial. In this meta-analysis, we searched for all studies on the association between CYP2A6 genotypes and lung cancer indexed in the MEDLINE, PubMed, Embase, China Biological Medicine, and Wanfang databases from January 1, 1966 to August 1, 2011. The pooled odds ratios (ORs) for one CYP2A6 mutant allele and two CYP2A6 mutant alleles, in comparison with the wild-type CYP2A6 gene, were 0.82 [95% confidence interval (CI) = 0.73-0.92] and 0.57 (95% CI = 0.48-0.68), respectively. Furthermore, in two studies of participants who were all smokers, the associations of one CYP2A6 mutant allele and two CYP2A6 mutant alleles with reduced risk of lung cancer were strengthened, and the pooled ORs were 0.71 (95% CI = 0.58-0.87) and 0.47 (95% CI = 0.35-0.62), respectively. However, we did not find statistically significant relationships between CYP2A6 genotypes and lung cancer in studies that included both never smokers and smokers (pooled OR(one CYP2A6 mutant allele) = 0.88, 95% CI = 0.76-1.01; pooled OR(two CYP2A6 mutant alleles) = 0.61, 95% CI = 0.35-1.06). The results of this meta-analysis suggest that the reduced-activity CYP2A6 genotype may decrease the risk of lung cancer in smokers only.