Evidence suggests that the amplification of chromosome 20q13 is common in colorectal cancers (CRCs). Certain candidate oncogenes located in this region are reported to be associated with tumorigenesis of the gastrointestinal tract. The functional impact of such regions should be extensively investigated in a large number of clinical samples. In this study, 145 CRC samples with matched adjacent normal tissues were collected from a Chinese population for copy number variation (CNV) analysis. Our results showed that both the copy numbers of 25-hydroxy vitamin D3 24-hydroxylase (CYP24A1) and zinc-finger protein 217 (ZNF217) were amplified in a relatively high percentage of CRC samples (51.1 and 60%, respectively). The mRNA expression levels of both CYP24A1 and ZNF217 were found to have increased in the collected CRC samples as compared to the matched adjacent normal tissues. ZNF217, but not CYP24A1, showed a positive correlation between copy number increases and mRNA overexpression. These findings suggest the potential role of CNVs of certain oncogenes in CRCs.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3436466 | PMC |
| http://dx.doi.org/10.3892/ol_00000163 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Advances in Prenatal Cell-Free DNA Screening for Dominant Monogenic Conditions: A Review of Current Progress and Future Directions in Clinical Implementation.
Prenat Diagn
January 2025
Key Laboratory of Reproductive Genetics (Ministry of Education) and Department of Reproductive Endocrinology, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Prenatal cell-free DNA (cfDNA) screening has advanced significantly, extending beyond detecting aneuploidies to sub-chromosomal copy number variations. However, its application for screening dominant single-gene conditions, often caused by de novo variants, remains underutilized in the general obstetric population. This study reviews recent data and experience on prenatal cfDNA screening for dominant monogenic conditions using multiple-gene panels, highlighting its potential to enhance early detection and management of genetic disorders.
View Article and Find Full Text PDFRevealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders.
Clin Genet
January 2025
Department of Medical Genetics, Medical Faculty, Aksaray University, Aksaray, Turkiye.
Inherited retinal diseases (IRDs) constitute a heterogeneous group of clinically and genetically diverse conditions, standing as a primary cause of visual impairment among individuals aged 15-45, with an estimated incidence of 1:2000. Our study aimed to comprehensively evaluate the genetic variants underlying IRDs in the Turkish population. This study included 50 unrelated Turkish IRD patients and their families.
View Article and Find Full Text PDFIntegrating mitochondrial and lysosomal gene analysis for breast cancer prognosis using machine learning.
Sci Rep
January 2025
Departments of Breast Surgery, First Affiliated Hospital, Nanjing Medical University, Nanjing, 210029, Jiangsu, People's Republic of China.
The impact of mitochondrial and lysosomal co-dysfunction on breast cancer patient outcomes is unclear. The objective of this study is to develop a predictive machine learning (ML) model utilizing mitochondrial and lysosomal co-regulators in order to provide a foundation for future studies focused on breast cancer (BC) patients' stratification and personalized interventions. Firstly, Differences and correlations of mitochondrial and lysosome related genes were screened and validated by differential analysis, copy number variation (CNV), single nucleotide polymorphism (SNPs) and correlation analysis.
View Article and Find Full Text PDFThe influence of genotype on the natural history of types 1 - 3 spinal muscular atrophy.
Neuromuscul Disord
December 2024
Pharma Personalized Healthcare, F. Hoffmann-La Roche Ltd, Basel, Switzerland.
The severity of spinal muscular atrophy (SMA) is inversely correlated with the number of survival of motor neuron 2 (SMN2) copies an individual has. This observational, retrospective analysis of natural history data included untreated individuals with a genetic diagnosis of types 1-3 SMA and stratified disease-related characteristics by SMN2 copy number. The outcomes investigated were time to: death, permanent ventilation, respiratory support, feeding support, scoliosis surgery, and achievement and loss of motor milestones.
View Article and Find Full Text PDFMicroRNA-203-3p participates in antiviral immune response by negatively regulating TRAF3 in the rainbow trout (Oncorhynchus mykiss).
Fish Shellfish Immunol
January 2025
College of Animal Science and Technology, Gansu Agricultural University, Lanzhou, 730070, China.
MicroRNAs (miRNAs) are highly conserved endogenous non-coding RNAs that play a crucial role in fish immune response by regulating gene expression at the post-transcriptional level. In recent years, the viral diseases caused by infectious hematopoietic necrosis virus (IHNV) have caused significant economic losses in rainbow trout (Oncorhynchus mykiss) aquaculture, whereas the immune regulatory mechanisms of miRNAs involved in rainbow trout resistance to IHNV infection remains largely undefined. In this study, we analyzed the structural characteristics of Oncorhynchus mykiss tumor necrosis factor receptor-associated factor 3 (OmTRAF3) by bioinformatics software and explored the molecular mechanism of miR-203-3p in rainbow trout resistance to IHNV by regulating OmTRAF3 in vivo and in vitro.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!