Emerging published data on the association between single nucleotide polymorphisms (SNPs) in the estrogen receptor 1 (ESR1) gene and cancer susceptibility are inconsistent. This review and meta-analysis is performed to derive a more precise evaluation of this relationship.

Upper tract urothelial carcinomas (UTUC) are rare tumors. Pathologist have a crucial role in establishing the diagnosis and the evaluation of the prognosis of these tumors.

Polymorphism 17q12 rs4430796 within HNF1β is a genetic variant associated with both diabetes mellitus and prostate cancer, but findings on the correlations of rs4430796 with prostate cancer risk specifically are not in agreement, especially among diverse populations. To shed some light on the contradictory findings, therefore, we carried out a meta-analysis by pooling the odds ratios (ORs) with corresponding 95% confidence intervals (CIs) of all currently available case-control studies located within PubMed and Embase databases up to December 2012. A total of 16 studies comprising 30 datasets that collectively involved 25,535 prostate cancer patients and 25,726 controls were ultimately included in this analysis. The meta-analysis of all the studies revealed that the rs4430796 polymorphism was significantly associated with an increased risk of prostate cancer in all contrast models (ORA vs G = 1.25, 95%CI = 1.21-1.30, POR < 0.001; ORAA vs GG = 1.53, 95%CI = 1.45-1.62, POR < 0.001; ORAG vs GG = 1.24, 95%CI = 1.16-1.34, POR < 0.001; ORAA vs AG+GG = 1.36, 95%CI = 1.30-1.42, POR < 0.001; ORAA+AG vs GG = 1.37, 95%CI = 1.30-1.44, POR < 0.001). After subgroup analyses stratified by ethnicity, however, the rs4430796 polymorphism was significantly associated with prostate cancer in both Caucasians and Asians but not in African-Americans. In conclusion, our meta-analysis identified a significant association between the 17q12 rs4430796 polymorphism and prostate cancer risk, although the degree of this association and frequency of the causative allele varied among men of different races.

Fibroblast growth factor receptor (FGFR) gene amplification has been reported in different types of cancer. We performed an up-to-date meta-analysis to further characterize the prognostic value of FGFR gene amplification in patients with cancer.

The prognostic value of epidermal growth factor receptor (EGFR) mutations in resected non-small cell lung cancer (NSCLC) remains controversial. We performed a systematic review with meta-analysis to assess its role.

To describe natural history and carcinogenesis of upper tract urothelial carcinoma (UTUC).

Over the past 4 years, our understanding of gliomagenesis and the practice of neuro-oncology have been radically changed by the discovery of mutations involving the isocitrate dehydrogenase (IDH) enzymes. IDH mutation has been found to be an inciting event in gliomagenesis and to have a profound effect on the molecular and genetic route of oncogenic progression and on clinical outcome.

Several studies were launched to investigate the potential function of ACE I/D polymorphism in gastric cancer development and prognosis, but no conclusive results have been obtained. We conducted a systematic review and meta-analysis to evaluate the association between ACE I/D polymorphism and gastric cancer.

Host immune response has an impact on tumour development and progression. There is interest in the use of inflammatory biomarkers (InfBMs) in cancer care. Although several studies assessing the potential prognostic value of InfBMs in cancer have been published in the past decades, they have had no impact on the management of patients with urothelial bladder carcinoma (UBC).

Homeobox genes are often deregulated in cancer. They can have both oncogenic and tumor-suppressing potential. The Caudal-related homeobox transcription factor 2 (CDX2) is an intestine-specific transcription factor. It is implicated in differentiation, proliferation, cell-adhesion, and migration. CDX2 has been proposed as a tumor suppressor in colorectal cancer but its role is still controversial. This systematic review were undertaken in order to clarify CDX2s role in colorectal cancer.

Tumor necrosis factor-alpha (TNF-α) has been found to be associated with gastric carcinogenesis, but individually published results have been inconclusive. The aim of this study was to explore the relationship between the TNF-α-308 G/A polymorphism and gastric cancer risk.

Women at hereditary increased risk of breast cancer are subjected to frequent clinical breast examination (CBE) and radiological evaluation of the breasts. This review appraises the additional cancer yield by CBE in screening of women at increased risk of breast cancer who are also subjected to frequent radiological evaluation. A literature search was conducted to identify all prospective studies on the additional value of CBE in screening of women at increased risk of breast cancer. Quality appraisal of included studies was performed using the QUADAS-2 tool. A total of 514 citations were identified. Relevant literature was scarce and highly heterogeneous. Seven prospective studies were included for review of which two studies reported additional cancer yield of CBE (3 and 5 % of total cancer cases). These two studies reported lower screen detection (77 and 80 %) compared to the studies in which no additional cases were detected by CBE (screen detection ≥94 %). Current literature on CBE in screening of women at increased risk of breast cancer is insufficient. However, it suggests that the additional cancer yield by performing CBE is minimal or absent. Reconsideration of the role of CBE in intensified screening might be warranted.

The -1082A>G polymorphism is located in promoter region of interleukin-10 (IL-10) and it could affect the production of IL-10. Numerous studies have investigated the association between IL-10 -1082A>G and risk of digestive cancer. However, the conclusion is still inconsistent. Here, we have performed a meta-analysis and systematic review to determine the association between the IL-10 -1082A>G and susceptibility to digestive cancer. In this meta-analysis, we identified 40 eligible studies, involving 7195 patients of digestive cancer and 11755 controls. By pooling all eligible studies, we found the variant -1082G allele significantly increased risk of digestive cancer (G vs. A: OR = 1.181, 95% CI: 1.057-1.319). Further stratified analysis was performed to evaluate the influence of cancer types, ethnicities, study design, sample size and Hardy-Weinberg equilibrium. Stratified analysis suggested that, the -1082A>G polymorphism was only associated with increased risk for gastric cancer (G vs. A: OR = 1.281, 95% CI: 1.102-1.488) and in Asian population (G vs. A: OR = 1.399, 95% CI: 1.188-1.646). No significant publication bias was detected. Based on 40 studies and 18950 participants, we found the variant IL-10 -1082G allele significantly increased susceptibility to digestive cancer, especially for gastric cancer and in Asian population.

The X-ray repair cross-complementing group 1 (XRCC1) gene belongs to the family of DNA repair genes. Polymorphisms in the XRCC1 gene, Arg399Gln, Arg194Trp and Arg280His, have been reported to have implications in differentiated thyroid carcinoma (DTC) susceptibility, but the results remain conflicting and no meta-analysis has been published. Therefore, we carried out a systematic review of the published epidemiology studies, aiming to assess the relationship between XRCC1 polymorphisms and susceptibility to DTC risk. We selected three databases, PubMed, EMBASE and CNKI, in which to search for published literature. With respect to DTC risk associated with XRCC1, combined odds ratios (ORs) and 95% confidence intervals (CI) were appropriately calculated on the basis of co-dominant, dominant and recessive models. To investigate different effects from specific race, subgroup analyses were carried out in Asian and Caucasian populations. Eight studies meeting the inclusion criteria were eventually selected for Arg399Gln (1,550 cases and 2,692 controls), five studies for Arg194Trp (858 cases and 1,394 controls) and five studies for Arg280His (1,237 cases and 2,267 controls). The combined results of the relevant studies exhibited that no significant associations with DTC risk were demonstrated for polymorphisms in XRCC1 Arg399Gln, Arg194Trp and Arg280His in all genetic models. Stratified analyses in Asian and Caucasian populations showed similar results. This meta-analysis arrives at a conclusion that the XRCC1 (Arg399Gln, Arg194Trp, Arg280His) polymorphisms appear to confer no risk for DTC.

The seventh edition of the American Joint Committee on Cancer guidelines recognize mitotic rate (MR) as a component of the staging criteria for cutaneous melanomas with a Breslow depth ≤1 mm.

To conduct a systematic review of the published epidemiological studies investigating the association of the interactions between gene variants and dietary intake with gastric cancer risk.

Runt-related transcription factor 3 (RUNX3) is a potential tumor suppressor that is frequently hypermethylated in hepatocellular carcinoma (HCC). The present meta-analysis of case-control studies was carried out to determine whether RUNX3 hypermethylation is associated with HCC. The PubMed, Embase, and Chinese National Knowledge Infrastructure databases were searched for all relevant studies published between May 2000 and May 2012. A total of 11 studies were identified, and 8 studies involving 491 patients with HCC and 409 patients without tumors were found to satisfy the inclusion criteria for the meta-analysis. All tissue samples were from Asian populations. There was significant heterogeneity between the studies. Over the entire sample, the odds ratio (OR) of RUNX3 promoter methylation was 18.5 [95% confidence interval (CI), 11.6-29.6] for HCC tissues relative to control tissues. The ORs of RUNX3 methylation were 16.6 (95%CI = 6.5-42.4) for tumor tissues relative to tumor-adjacent tissues in patients with HCC, 67.3 (95%CI = 13.0-348.5) for tumor tissues from patients with HCC relative to liver tissues from patients with non-neoplastic liver diseases, and 3.26 (95%CI = 1.54-6.90) for tissues from patients with hepatitis C virus (HCV)- related HCC relative to liver tissues from patients with HCC unrelated to HCV. There was no association between RUNX3 methylation and age, gender, pathological stage, or hepatitis B virus infection in HCC tissues. Methylation of the RUNX3 promoter strongly correlated with HCC in Asian populations, especially in individuals with HCV-related HCC, and may be a useful marker for HCC diagnosis in these populations.

MicroRNAs (miRNAs) have been proposed as ideal diagnostic indicators of prostate cancer (CaP). However, previous studies have reported conflicting results. Therefore, we conducted this meta-analysis to assess the potential diagnostic value of miRNAs for CaP. A systematic literature search was conducted in PubMed and other databases. Results from different studies were pooled using random effects models. The pooled sensitivity (SEN), specificity (SPE), positive and negative likelihood ratios (PLR and NLR, respectively), diagnostic odds ratio (DOR), and area under the curve (AUC) were calculated to evaluate the overall test performance. Between-study heterogeneity was tested using the chi-squared test and the I (2) test. Meta-regression and subgroup analyses were performed to explore the potential sources of heterogeneity. Fifty-eight studies from ten articles, including 669 patients with CaP and 404 controls composed of healthy individuals and patients with benign prostatic hyperplasia (BPH), were included in this meta-analysis. The pooled SEN and SPE were 0.74 (95 % confidence interval (CI) 0.70-0.78) and 0.73 (95 % CI 0.70-0.76), respectively. The pooled PLR was 2.7 (95 % CI 2.4-3.1); NLR was 0.35 (95 % CI 0.30-0.42); and DOR was 8 (95 % CI 6-10). The pooled AUC was 0.79 (95 % CI 0.76-0.83). Subgroup analyses indicated that multiple miRNAs yielded a better diagnostic accuracy. This systematic review suggests that miRNA analysis can significantly improve the overall accuracy of CaP diagnosis. Moreover, using multiple miRNA-based assays could achieve significantly higher accuracy in diagnosing CaP than single miRNA-based assays.

Lung cancer (LC) is one of the most prevalent causes of cancer death with a high mortality rate worldwide. While various sets of microRNAs (miRNAs) have been found to be highly sensitive and specific biomarkers for the early diagnosis of LC (the first word of abstract), conflicting results on their diagnostic accuracy are still present in individual studies. Thus, we aimed to conduct a systematic review and meta-analysis of the published literature to comprehensively assess the diagnostic value of miRNAs for predicting LC. The sensitivity and specificity of each included study were used to plot the summary receiver operator characteristic (SROC) curve and to calculate the area under the SROC curve (AUC). All analyses were performed using the Stata 12.0 software. Twenty-six articles were involved in our meta-analysis, 18 of which focused on single miRNA assays and 15 on multiple miRNA assays. For single miRNA profiling, the pooled parameters calculated from all studies are as follows: sensitivity (SEN), 0.72; specificity (SPE), 0.74; positive likelihood ratio (PLR), 2.7; negative likelihood ratio (NLR), 0.39; and diagnostic odds ratio (DOR), 7. For multiple miRNA profiling, the pooled estimates for the overall studies are as follows: SEN, 0.81; SPE, 0.84; PLR, 4.9; NLR, 0.23; and DOR, 22, which are significantly better than the diagnostic performance of the single miRNA profiling. In addition, subgroup analyses based on sample types suggested that blood-based multiple miRNA assays were more accurate than non-blood-based studies. In conclusion, the current meta-analysis shows that multiple miRNA assays were more accurate in diagnosing LC than single miRNA assays. However, further large-scale investigations are urgently needed to confirm our results and verify the feasibility of routine clinical utilization.

Patients with DLBCL exhibit widely divergent outcomes despite harboring histologically identical tumors. Currently, GEP and IHC algorithms assign patients to 1 of 2 main subtypes: germinal center B cell-like (GCB), or activated B cell-like (ABC), the latter of which historically carries a less favorable prognosis. However, it remains controversial as to whether these prognostic groupings remain valid in the era of rituximab therapy.