Previous studies concerning the role of CD86 polymorphisms (rs1129055 and rs17281995) in cancer fail to provide compelling evidence. The aim of this study was to investigate the role of common polymorphisms in the risk of cancer by meta-analysis.

Numerous studies have evaluated the association between the human interleukin-10 gene -592C>A polymorphism and gastric cancer risk. However, the results have been inconsistent. This meta-analysis was designed to resolve these controversies. Systematic searches of the electronic databases Embase, PubMed, and Google Scholar were performed to identify relevant studies. A meta-analysis was performed to examine the association between the interleukin-10 gene -592C>A polymorphism and gastric cancer risk. Odds ratios (OR) and its 95% confidence intervals (CI) were used for statistical analysis. Twelve studies were included in the meta-analysis, which included 2116 gastric cancer cases and 4077 controls. No significant association was found between the interleukin-10 gene -592C>A polymorphism and gastric cancer risk in total population analysis. In stratified analysis, a significant association was found in the Asian subgroup (AA vs AC: OR = 0.79, 95%CI = 0.64-0.98; dominant model: OR = 1.26, 95%CI = 1.04-1.57), and no significant association was observed among Caucasians. In addition, the corresponding pooled ORs were not substantially altered after excluding one study that deviated from Hardy-Weinberg equilibrium in the control group. This meta-analysis supports an association between the interleukin-10 gene -592C>A polymorphism and gastric cancer risk in Asians but not in Caucasians. Further large and well-designed studies are needed to confirm these conclusions.

A T>G single nucleotide polymorphism (SNP, rs2279744) of the MDM2 gene has been investigated in sarcoma community, but the findings are conflicting. This study was designed to well define the relationship between SNP rs2279744 and sarcoma risk. We did a systematic computerized search of the PubMed, Web of Science, and Science Direct databases to identify the human case-control studies investigating the relationship between SNP rs2279744 and sarcoma risk with complete genetic data. Pooled odds ratios (ORs) were calculated with the Mantel-Haenszel fixed-effect model or the DerSimonian and Laird random effects model to estimate the risk of sarcoma. Overall analysis included five independent studies. On the whole, the T/G genotype or the combined G/G and T/G genotypes appeared to be associated with approximately 1.40-fold higher risk of sarcoma relative to the T/T genotype (T/G vs. T/T: OR 1.33, 95% CI 1.00-1.77; G/G + T/G vs. T/T: OR 1.42, 95% CI 1.08-1.85). We noted that the Caucasian populations showed a similarly increased risk of sarcoma ascribed to the carriage of the same genotypes (T/G vs. T/T: OR 1.41, 95% CI 1.05-1.90; G/G + T/G vs. T/T: OR 1.49, 95% CI 1.13-1.97). This meta-analysis provides evidence that MDM2 SNP rs2279744 may be significantly associated with increased risk of sarcoma in Caucasian individuals.

Though HLA-DP/DQ is regarded to associate with HBV susceptibility and HBV natural clearance, its role in hepatocellular carcinoma (HCC) development is obscure. And the role of STAT4 in HBV susceptibility and clearance as well as HCC development is still contentious. Therefore, we conducted this study, aiming to clarify these obscure relationships.

The frequencies of EML4-ALK fusion gene in non-small cell lung cancer (NSCLC) with different clinicopathologic features described by previous studies are inconsistent. The key demographic and pathologic features associated with EML4-ALK fusion gene have not been definitively established. This meta-analysis was conducted to compare the frequency of the EML4-ALK fusion gene in patients with different clinicopathologic features and to identify an enriched population of patients with NSCLC harboring EML4-ALK fusion gene.

Toll-like receptor 4 (TLR4) is one of the best known TLR members expressed on the surface of several leukocytes and tissue cells and has a key function in detecting pathogen and danger-associated molecular patterns. The role of TLR4 in the pathophysiology of several age-related diseases is also well recognized, such as prostate cancer (PCa). TLR4 polymorphisms have been related to PCa risk, but the relationship between TLR4 genotypes and aggressive PCa risk has not been evaluated by any systematic reviews.

The aim of this study was to identify the candidate genes of esophageal squamous cell carcinoma (ESCC).

Angiotensin-converting enzyme (ACE) I/D polymorphism has been reported to be associated with lung cancer, but the results of previous studies are conflicting. The present study was designed to investigate the association between this polymorphism and the risk of lung cancer using a meta-analysis of the published studies.

BRCA2 gene plays an important role in homologous recombination. Polymorphic variants in this gene has been suggested to confer cancer susceptibility. Numerous studies have investigated association between BRCA2 N372H polymorphism and risk of several cancers, especially breast cancer. However, the results were inconsistent. We performed a comprehensive meta-analysis to provide a more precise assessment of the association between N372H and cancer risk, following the latest meta-analysis guidelines (PRISMA). Forty six studies involving 36299 cases and 48483 controls were included in our meta-analysis. The crude ORs and the 95% CIs were used to evaluate the strength of the association. The results indicated that the BRCA2 N372H variant was significantly associated with an increased risk of overall cancer (dominant model: OR = 1.07, 95% CI = 1.01-1.13; recessive model: OR = 1.12, 95% CI = 1.02-1.23). Moreover, stratified analyses by the cancer type and source of control observed significantly increased risk associated with BRCA2 N372H in subgroups with ovarian cancer, non-Hodgkin lymphoma and population-based controls, but not breast cancer or hospital-based controls. We also found such association among Africans. Overall, the meta-analysis suggested that BRCA2 N372H may be a cancer susceptibility polymorphism. Well-designed and large-scale studies are needed to substantiate the association between BRCA2 N372H polymorphism and cancer risk.

To estimate the effects of BRCA1 and BRCA2 mutations on ovarian cancer and breast cancer survival.

Published data on the relation between REF1 polymorphism and colorectal cancer risk showed inconclusive results. The aim of this study was to derive a comprehensive estimation of the association. Data on association between REF1 polymorphism and colorectal cancer risk were summarized. The association was estimated by calculating an odds ratio (OR) with corresponding 95 % confidence interval (95 % CI) with the fixed effects model when P > 0.1 (from heterogeneity test) or with the random effects model when P < 0.1. No significant association was revealed in any genetic model assumed for the overall analysis (OR = 1.03, 95 % CI = 0.81-1.32 for Glu/Glu vs. Asp/Asp; OR = 1.05, 95 % CI = 0.96-1.15 for Glu/Glu + Asp/Glu vs. Asp/Asp; OR = 0.97, 95 % CI = 0.76-1.23 for Glu/Glu vs. Asp/Glu + Asp/Asp; OR = 1.03, 95 % CI = 0.92-1.16 for Glu vs. Asp; OR = 1.09, 95 % CI = 0.93-1.27 for Asp/Glu vs. Asp/Asp). In Caucasian population, nor did we find a significant association. This research indicates that REF1 polymorphism is unlikely to be associated with colorectal cancer risk.

The association between common variations (rs10937405, rs4488809) on 3q28 and lung cancer has been widely evaluated in various ethnic groups, since it was first identified through genome-wide association approach. However, the results have been inconclusive. To derive a more precise estimation of the relationship and the effect of factors that might modify the risk, we performed this meta-analysis. The random-effects model was applied, addressing heterogeneity and publication bias. A total of 10 articles involving 36,221 cases and 58,108 controls were included. Overall, the summary per-allele OR of 1.19 (95 % CI 1.14-1.25, P < 10(-5)) and 1.17 (95 % CI 1.10-1.23, P < 10(-5)) was found for the rs10937405 and rs4488809 polymorphisms, respectively. Significant results were also observed in heterozygous and homozygous when compared with wild genotype for these polymorphisms. Significant results were found in East Asians when stratified by ethnicity, whereas no significant associations were found among Caucasians. After stratifying by sample size, study design, control source and sex, significant associations were also obtained. In addition, our data indicate that these polymorphisms are involved in lung cancer susceptibility and confer its effect primarily in lung adenocarcinoma when stratified by histological subtype. Furthermore, significant associations were also detected both never-smokers and smokers for these polymorphisms. In conclusion, this meta-analysis demonstrated that rs10937405 and rs4488809 are a risk factor associated with increased non-small cell lung cancer susceptibility, particularly for East Asian populations.

Although many epidemiologic studies have investigated the methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and their association with acute lymphoblastic leukemia (ALL), definitive conclusions cannot be drawn. To clarify the effects of MTHFR polymorphisms on the risk of ALL, a meta-analysis was performed in a Chinese population.

Xeroderma pigmentosum complementation group F (XPF or ERCC4) plays a key role in DNA repair that protects against genetic instability and carcinogenesis. Several epidemiological studies have examined associations between XPF polymorphisms and gastric cancers risk, but the findings remain inconclusive. Therefore, we conducted the present meta-analysis to obtain the most reliable estimate of the association.

To understand the translational trajectory of genomic tests in cancer screening, diagnosis, prognosis, and treatment, we reviewed tests that have been assessed by recommendation and guideline developers.

Gastric cancer (GC) is a common cause of cancer-related death. The etiology and pathogenesis of GC remain unclear, with genetic and epigenetic factors playing an important role. Previous studies investigated the association of GC with many genetic variants in and promoter hypermethylation of E-cadherin gene (CDH1), with conflicting results reported.To clarify this inconsistency, we conducted updated meta-analyses to assess the association of genetic variants in and the promoter hypermethylation of CDH1 with GC, including C-160A (rs16260) and other less-studied genetic variants,Data sources were PubMed, Cochrane Library, Google Scholar, Web of Knowledge, and HuGE, a navigator for human genome epidemiology.Study eligibility criteria and participant details are as follows: studies were conducted on human subjects; outcomes of interest include GC; report of genotype data of individual genetic variants in (or methylation status of) CDH1 in participants with and without GC (or providing odds ratios [OR] and their variances).Study appraisal and synthesis methods included the use of OR as a measure of the association, calculated from random effects models in meta-analyses. We used I for the assessment of between-study heterogeneity, and publication bias was assessed using funnel plot and Egger test.A total of 33 studies from 30 published articles met the eligibility criteria and were included in our analyses. We found no association between C-160A and GC (OR = 0.88; 95% confidence interval [CI], 0.71-1.08; P = 0.215), assuming an additive model (reference allele C). C-160A was associated with cardia (OR = 0.21; 95% CI, 0.11-0.41; P = 2.60 × 10), intestinal (OR = 0.66; 95% CI, 0.49-0.90; P = 0.008), and diffuse GC (OR = 0.57; 95% CI, 0.40-0.82; P = 0.002). The association of C-160A with noncardia GC is of bottom line significance (OR = 0.65; 95% CI, 0.42-1.01; P = 0.054). Multiple other less-studied genetic variants in CDH1 also exhibited association with GC. Gene-based analysis indicated a significant cumulative association of genetic variants in CDH1 with GC (all Ps <10). Sensitivity analysis excluding studies not meeting Hardy-Weinberg equilibrium (HWE) yielded similar results. Analysis by ethnic groups revealed significant association of C-160A with cardia GC in both Asian and whites, significant association with noncardia GC only in Asians, and no significant association with intestinal GC in both ethnic groups. There was significant association of C160-A with diffuse GC in Asians (P = 0.011) but not in whites (P = 0.081). However, after excluding studies that violate HWE, this observed association is no longer significant (P = 0.126). We observed strong association of promoter hypermethylation of CDH1 with GC (OR = 12.23; 95% CI, 8.80-17.00; P = 1.42 × 10), suggesting that epigenetic regulation of CDH1 could play a critical role in the etiology of GC.Limitations of this study are as follows: we could not adjust for confounding factors; some meta-analyses were based on a small number of studies; sensitivity analysis was limited due to unavailability of data; we could not test publication bias for some meta-analyses due to small number of included studies.We found no significant association of the widely studied genetic variant C-160A, but identified some other genetic variants showing significant association with GC. Future studies with large sample sizes that control for confounding risk factors and/or intensively interrogate CpG sites in CDH1 are needed to validate the results found in this study and to explore additional epigenetic loci that affect GC risk.

Circulating tumor DNA (ctDNA) has offered a minimally invasive and feasible approach for detection of EGFR mutation for non-small cell lung cancer (NSCLC). This meta-analysis was designed to investigate the diagnostic value of ctDNA, compared with current "gold standard," tumor tissues.

Although the predictive value of the excision repair cross-complementing group 1 (ERCC1) C118T polymorphism in clinical outcomes of patients with colorectal cancer (CRC) receiving oxaliplatin-based chemotherapy has been evaluated in numerous published studies, the conclusions are conflicting. Therefore, we performed the present meta-analysis to determine the precise role of the ERCC1 C118T polymorphism in this clinical situation and help optimize individual chemotherapy.

The relationship between caveolin-1 (Cav-1) and clinicopathological characteristics of gastric cancer is controversial, although Cav-1 plays an important role in tumor metastasis. To evaluate the clinicopathological and prognostic value of expression in patients with gastric cancer, a meta-analysis was performed to investigate the impact on clinicopathological parameters and prognosis in gastric cancer cases. Studies assessing these parameters for Cav-1 in gastric cancer were identified up to June 2014. Finally, a total of six studies met the inclusion criteria. Our combined results showed that Cav-1 expression was significantly associated with the Lauren classification (pooled OR=0.603, 95% CI: 0.381-0.953, P=0.030). Furthermore, we found that Cav-1 expression predicted a better overall survival in gastric cancer patients (pooled OR=0.590, 95% CI: 0.360-0.970, P=0.038, fixed-effect). In conclusion, the overall data of the present meta analysis showed that Cav-1 expression was not correlated with clinicopathological features except for the Lauren classification. Simultaneously, Cav-1 overexpression predicted a better overall survival in gastric cancer. Cav-1 expression in tumors is a candidate positive prognostic biomarker for gastric cancer patients.