BMC Genomic Data

BRCA 1/2 mutations and risk of uterine cancer: a systematic review and meta-analysis

Abstract Purpose In this study, we aim to investigate the association between BRCA1/2 mutation and uterine cancer incidence. Material and method We systematically searched three databases including PubMed, Scopus, and Google Scholar up to August 2023; and reviewed 23 cohorts and cross-sectional studies to explore the association between BRCA1/2 mutations and uterine cancer incidence. Results This systematic review comprised a total of 21 cohort studies and 2 cross-sectional studies after the screening process. According to meta-analysis the prevalence of the BRCA1/2 gene in patients with uterine cancer was 0.02 (95%CI = [0.01,0.03], P < 0.01, I2 = 94.82%) Conclusions Our meta-analysis investigates a 2% prevalence of BRCA1/2 mutation in patients with uterine cancer. Patients with BRCA1/2 mutations might be more conscious of uterine malignancies.

Identification of inflammatory-related gene signatures to predict prognosis of endometrial carcinoma

AbstractLittle is known about the prognostic risk factors of endometrial cancer. Therefore, finding effective prognostic factors of endometrial cancer is the vital for clinical theranostic. In this study, we constructed an inflammatory-related risk assessment model based on TCGA database to predict prognosis of endometrial cancer. We screened inflammatory genes by differential expression and prognostic correlation, and constructed a prognostic model using LASSO regression analysis. We fully utilized bioinformatics tools, including ROC curve, Kaplan–Meier analysis, univariate and multivariate Cox regression analysis and in vitro experiments to verify the accuracy of the prognostic model. Finally, we further analyzed the characteristics of tumor microenvironment and drug sensitivity of these inflammatory genes. The higher the score of the endometrial cancer risk model we constructed, the worse the prognosis, which can effectively provide decision-making help for clinical endometrial diagnosis and treatment.

Construction and comprehensive analysis of the competing endogenous RNA network in endometrial adenocarcinoma

Abstract Background Endometrial carcinoma (EC) is one of the most common gynecological malignant tumors. In this study, we constructed gene co-expression networks to identify key modules and hub genes involved in the pathogenesis of EC. Results The MEturquoise module was found to be significantly related to hypertension and the MEbrown module was significantly related to the history of other malignancies. Functional enrichment analysis showed that the MEturquoise module was associated with the GO biological process terms of transcription from RNA polymerase II promoter, positive regulation of male gonad development, endocardial cushion development, and endothelial cell differentiation. The MEbrown module was associated with GO terms DNA binding, epithelial-to-mesenchymal transition, and transcription from RNA polymerase II promoter. A total of 10 hub genes were identified and compared with the available datasets at transcriptional and translational levels. Conclusions The identified ceRNAs may play a critical role in the progression and metastasis of EC and are thus candidate therapeutic targets and potential prognostic biomarkers. The two modules constructed further provide a useful reference that will advance understanding of the mechanisms of tumorigenesis in EC.

N6-Methyladenosine-Related lncRNAs as potential biomarkers for predicting prognoses and immune responses in patients with cervical cancer

Abstract Background Several recent studies have confirmed epigenetic regulation of the immune response. However, the potential role of RNA N6-methyladenosine (m 6 A) modifications in cervical cancer and tumour microenvironment (TME) cell infiltration remain unclear. Results We evaluated and analysed m 6 A modification patterns in 307 cervical cancer samples from The Cancer Genome Atlas (TCGA) dataset based on 13 m 6 A regulators. Pearson correlation analysis was used to identify lncRNAs associated with m 6 A, followed by univariate Cox regression analysis to screen their prognostic role in cervical cancer patients. We also correlated TME cell infiltration characteristics with modification patterns. We screened six m 6 A-associated lncRNAs as prognostic lncRNAs and established the prognostic profile of m 6 A-associated lncRNAs by least absolute shrinkage and choice of operator (LASSO) Cox regression. The corresponding risk scores of the patients were derived based on their prognostic features, and the correlation between this feature model and disease prognosis was analysed. The prognostic model constructed based on the TCGA-CESC (The Cancer Genome Cervical squamous cell carcinoma and endocervical adenocarcinoma) dataset showed strong prognostic power in the stratified analysis and was confirmed as an independent prognostic indicator for predicting the overall survival of patients with CESC. Enrichment analysis showed that biological processes, pathways, and markers associated with malignancy were more common in the high-risk subgroup. Risk scores were strongly correlated with the tumour grade. ECM receptor interactions and pathways in cancer were enriched in Cluster 2, while oxidative phosphorylation and other biological processes were enriched in Cluster 1. The expression of immune checkpoint molecules, including programmed death 1 (PD-1) and programmed death ligand 1 (PD-L1), was significantly increased in the high-risk subgroup, suggesting that this prognostic model could be a predictor of immunotherapy. Conclusions This study reveals that m 6 A modifications play an integral role in the diversity and complexity of TME formation. Assessing the m 6 A modification patterns of individual tumours will help improve our understanding of TME infiltration characteristics and thus guide immunotherapy more effectively. We also developed an independent prognostic model based on m 6 A-associated lncRNAs as a predictor of overall survival, which can also be used as a predictor of immunotherapy.