Genetic Testing and Molecular Biomarkers

Background: Transglutaminase 2 (TG2), a member of the transglutaminase family, also known as tissue transglutaminase, plays a fundamental role in cancer growth and progression. In this study, we aimed to comprehensively review the evidence of TG2 as a prognostic biomarker in solid tumors. Methods: PubMed, Embase, and Cochrane databases were searched for human studies with clearly described cancer types if they presented the relationship between TG2 expression and prognostic indicators from inception to February 2022...

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Background: P-element-induced wimpy testis (PIWI)-interacting RNAs (piRNAs) are a type of noncoding RNA and are predominantly expressed in germline cells. piRNAs function as gene regulators and potential biomarkers for the development of a number of malignancies. The biological importance of piRNAs in ovarian cancer is still unknown. In this study, we investigated the expression of piRNAs in ovarian cancer stem cells and compared it with that in adherent cells. Methods: To assess changes in the expression levels of PIWIL1/HIWI, PIWIL2/HILI, PIWIL3, and PIWIL4/HIWI2, we used quantitative reverse-transcription polymerase chain reaction (RT-qPCR) analysis...

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Background: It has been reported that prostate stem cell antigen (PSCA) is overexpressed in certain cancer types and confers poor prognoses. The rs2294008 (C/T) polymorphism of PSCA is considered to be associated with risk for gastric, bladder, and colorectal cancers; however, these studies have produced inconsistent results, so we performed this meta-analysis to verify the association between the PSCA rs2294008 (C/T) polymorphism and cancer risk. Methods: A systematic literature search was performed using PubMed, EMBASE, and the Chinese National Knowledge Infrastructure, through October 20, 2022 according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines...

Aims: Mitochondrial functional transformation contributes to the carcinogenesis of the prostate by meeting the metabolic needs of cancer cells. Mitochondrial transcription factor A (TFAM) is a pivotal regulator that maintains homeostasis of mitochondrial function. However, its role in prostate carcinogenesis has not been well elucidated. Materials and Methods: In the present study, we analyzed the expression of TFAM in normal prostate tissue and prostate cancer using public databases; a prostate-tissue chip was used to verify the results...

Background: Long non-coding RNAs (lncRNAs), as functional components of the human genome, are widely involved in cell proliferation, differentiation, apoptosis, migration and invasion by several types of cancer, including lung cancer. However, the role of lncRNA IPW in lung cancer has not been fully elucidated. The aim of the present study was to characterize the expression and clinical significance of lncRNA IPW in lung cancer. Materials and Methods: IPW expression in tumor samples and cells was assessed using the Oncomine and Cancer Cell Line Encyclopedia (CCLE) database, respectively...

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Background: Many indigenous peoples are at elevated risk for otitis media, however there is limited information on hearing loss due to OM in these communities. An Indigenous Filipino community that has previously been described with an elevated prevalence of OM that is due to rare A2ML1 variants and a common FUT2 variant underwent additional phenological testing. In this study, we describe the audiologic profiles in A2ML1 - and FUT2 -related otitis media and the validity of otoscopy and genotyping for A2ML1 and FUT2 variants in screening for otitis media and hearing loss...

Purpose: Scalable solutions are needed to make pre-test genetic education about inherited cancer risk accessible across diverse and underserved populations. We evaluated an automated strategy to deliver genetic education through a web-based video among young Black females with breast cancer. Methods: 96 participants were recruited through state cancer registries in Florida and Tennesee. All participants viewed a 12 min video and completed a ten question quiz on inherited cancer knowledge before and after viewing the video...

Aim: To identify genes associated with the prognosis of head and neck squamous cell carcinoma (HNSC) and potential molecular targets for therapy. Materials and Methods: Gene Expression Profiling Interactive Analysis, Human Protein Atlas, University of ALabama at Birmingham CANcer, LinkedOmics, cBioPortal, Cell Counting Kit 8, and polymerase chain reaction were used in this study. Results: The expression level of nuclear transport factor 2 (NUTF2) was elevated in HNSC tissues and was associated with poor prognosis in HNSC patients...

Background: Conventional newborn screening (NBS) is usually based on biochemical methods to predict the risk of inborn errors of metabolism. Recent studies have applied next-generation sequencing in NBS and revealed much more information, including carrier status. Whether these carriers of variants differ from other individuals was not fully determined. Objective: This research investigated the effect of heterozygous carrier status of pathogenic variants on biochemical indicators during NBS. Methods: We enrolled newborns participating in both conventional NBS and our previous Newborn Screening with Targeted Sequencing (NESTS) program from January 2021 to December 2021 in the Shunyi Maternal and Children's Hospital of Beijing Children's Hospital...

Purpose: To explore the genetic defects in two Chinese families with X-linked Norrie disease (ND). Methods: We analyzed two Chinese families with ND at molecular level through clinical exome sequencing and the variations were identified by Sanger sequencing. Results: Two genetic variations were found in the NDP gene by clinical exome sequencing, a partial deletion of 801 bp contained the whole exon 2 and a missense variant (164G>A) within codon 55 that resulted in the interchange of cysteine by phenylalanine...

Aims: In this study, we determined whether different genotypes of drug-metabolizing enzymes are associated with the therapeutic effects of gefitinib in non-small cell lung cancer (NSCLC). Methods: A retrospective analysis of 112 patients with stage III or IV NSCLC was performed. The clinical characteristics of these patients, including progression-free survival (PFS), outcome of gefitinib treatment, and relationship between the genotypes of rs1065852/rs2242480 and prognosis, were analyzed. Results: The rs1065852 CT/TT genotype was associated with worse prognosis than the CC type ( p  = 0...

Background: Liver cancer is one of the most frequently diagnosed malignant tumors, with an extremely high incidence rate. Diagnosis of liver cancer is difficult with the existing methods and improved biomarkers are urgently needed. A number of studies have established a link between abnormal miR-375 expression and liver cancer. Therefore, we conducted a systematic analysis to appraise whether miR-375 can be used as a screening tool for liver cancer detection. Methods: Through a systematic database search, studies investigating miR-375 expression in serum by the quantitative real-time reverse transcription-PCR (qRT-PCR) method were included in the study...

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Background: Melanoma is the most lethal skin tumor. PARP1 plays an oncogenic role in tumors, but the mechanism of PARP1 in melanoma remains unclear. Explicating the functional mechanism of PARP1 might highlight new targets for improving the survival rate of melanoma patients. Methods: First, the expression level of PARP1 and its correlation with prognosis of melanoma were examined by the TCGA dataset, GEO12391 dataset, and western blot. Then, the differentially expressed genes (DEGs) after PARP1 intervention were screened by microarray slides...

Background: Breast cancer is a heterogeneous disease. Small tumors with extensive lymph node involvement (STEL) in breast cancer often reflect a biologically aggressive phenotype and poor prognosis. The aim of this study was to identify key genes associated with STEL and investigate their prognostic values in breast cancer. Methods: RNA-sequencing data of breast cancer were acquired from The Cancer Genome Atlas (TCGA) database for differential analysis, and weighted gene correlation network analysis (WGCNA) was performed to identify coexpressed gene modules associated with tumor size and lymph node metastasis...

Background: The abnormal expression of genes in serum may be associated with early diagnosis of patients with malignant tumors. This study aimed to screen potential genes that may be associated with gastric cancer using bioinformatics methods. Methods: RNA-seq data of gastric cancers were downloaded from The Cancer Genome Atlas and Gene Expression Omnibus databases, and 1903 secretory genes were downloaded from the Human Protein Atlas database. The diagnostic secretory RNAs of gastric cancer were screened using least absolute shrinkage and selection operator regression analysis...