A5083369206- BRCA gene mutations in cancer
- Helicobacter pylori-related gastroenterology studies
- DNA Repair Mechanisms
- Carcinogens and Genotoxicity Assessment
- Genetic factors in colorectal cancer
- Cancer-related molecular mechanisms research
- Cleft Lip and Palate Research
- RNA modifications and cancer
- MicroRNA in disease regulation
- Epigenetics and DNA Methylation
- Folate and B Vitamins Research
- Cancer Genomics and Diagnostics
- Neurogenetic and Muscular Disorders Research
- Effects and risks of endocrine disrupting chemicals
- Veterinary medicine and infectious diseases
- Circular RNAs in diseases
- Muscle Physiology and Disorders
- CRISPR and Genetic Engineering
- Gastrointestinal disorders and treatments
- Digestive system and related health
- Cardiomyopathy and Myosin Studies
- Cancer-related gene regulation
- Genetic Associations and Epidemiology
- Genetically Modified Organisms Research
- IL-33, ST2, and ILC Pathways
University of Chile
2015-2024
MicroRNAs (miRNAs) are a novel class of endogenous, non-coding, single-stranded RNAs capable regulating gene expression by suppressing translation or degrading mRNAs. Single nucleotide polymorphisms (SNP) can alter miRNA expression, resulting in diverse functional consequences. Previous studies have examined the association SNPs with breast cancer (BC) susceptibility. The contribution variants to BC susceptibility South American women had been unexplored. Our study evaluated rs895819...
The RAS/RAF/MEK/ERK pathway regulates certain cellular functions, including cell proliferation, differentiation, survival, and apoptosis. Dysregulation of this leads to the occurrence progression cancers mainly by somatic mutations. This study aimed assess if polymorphisms are associated with gastric cancer. A case-control 242 cancer patients controls was performed association 27 single nucleotide (SNPs) in genes Analyses under additive model (allele) showed four significantly SNPs: RAF1...
Inflammation is a key process in gastric carcinogenesis. Cytokines are mediators of inflammation and involved metastasis tumorigenicity. We previously assessed the role cytokine gene polymorphisms cancer risk Chile. In present study, we aimed to analyze whether these associated with overall survival (OS) (GC) patients.A total 153 individuals GC diagnosis were followed-up for at least 2 years. Hazard ratios (HR) estimated from Cox regression models using SNPs as predictor variables. The...
Abstract Background The ATM gene has been frequently involved in hereditary breast cancer as a low-penetrance susceptibility but evidence regarding the role of contradictory. Methods In this study, full mutation analysis was carried out patients from 137 Chilean families, which 126 were BRCA1/2 negatives and 11 positives. We further perform case-control study between subgroup cases 200 controls for 5557G>A missense variant IVS38-8T>C IVS24-9delT polymorphisms. Results we detected two...
Breast cancer (BC) is one of the most frequent tumors affecting women worldwide. microRNAs (miRNAs) single-nucleotide polymorphisms (SNPs) likely contribute to BC susceptibility. We evaluated association five SNPs with risk in non-carriers BRCA1/2-mutation from a South American population. The were genotyped 440 Chilean BRCA1/2-negative cases and 1048 controls. Our data do not support an between rs2910164:G>C or rs3746444:A>G risk. rs12975333:G>T monomorphic pre-miR-605 rs2043556-C allele...
Gastric cancer (GC) is the fifth most prevalent type of worldwide. tumor cells express MICA protein, a ligand to NKG2D receptor that triggers natural killer (NK) effector functions for early elimination. gene highly polymorphic, thus originating alleles encode protein variants with controversial role in cancer. The main goal this work was study polymorphisms and their relationship susceptibility prognosis GC. Fifty patients GC 50 healthy volunteers were included study. identified using...
Germline mutations in PALB2 have been identified approximately 1% of familial breast cancer (BC) several populations. Nevertheless its contribution the South-American population is unknown. The goal this study was to determine prevalence Chilean population. 100 BRCA1/2-negatives BC cases were included for mutation analysis. We use conformational sensitive gel electrophoresis and direct sequencing. Using a case-control design, we studied variants 436 809 controls evaluate their possible...
Abstract The alkaline single-cell gel electrophoresis (SCGE) assay, also called the comet is a rapid and simple method for detection of DNA damage in individual cells. objective this study was to establish if SCGE assay whole blood cells gives similar results as same isolated lymphocytes, because are simpler more economical use, specifically human genotoxic biomonitoring. To validate method, we first used mouse cells, one most commonly animals genetic toxicology testing. Groups seven CF1...
Understanding the natural history of dysferlinopathy is essential to design and quantify novel therapeutic protocols. Our aim in this study was assess, clinically functionally, a cohort patients with dysferlinopathy, using validated scales.Thirty-one genetically confirmed were assessed motor function measure (MFM), Modified Rankin Scale (MRS), Muscle Research Council (MRC) scale, serum creatine kinase (CK) assessment, baseline spirometry data, echocardiographic electrophysiologic studies.MFM...
Current available treatments for Helicobacter pylori eradication are chosen according to local clarithromycin and metronidazole resistance prevalence. The aim of this study was estimate, by means molecular methods, both in gastric mucosa from patients infected with H.pylori. A total 191 DNA samples were analyzed. purified obtained who underwent an upper gastrointestinal endoscopy at university hospital Santiago, Chile, between 2011 2014. H.pylori detected real-time PCR. 5’exonuclease assay...
Epithelial-mesenchymal transition (EMT) program has been linked as a driver of metastatic dissemination by conferring migratory and invasive capacity to cancer cells. Gastric (GC) patients with tumors expressing altered levels EMT markers have low survival. This study aimed assess if polymorphisms CDH1, TWIST1, SNAIL2, ZEB1 ZEB2 genes are associated survival in GC patients.A total 153 individuals diagnosis were recruited Santiago, Chile. All genotyped using Infinium Global Screening Array...
Helicobacter pylori is detected by pathogen recognition receptors including toll-like (TLR) and nucleotide-binding oligomerization domain (NOD)-like receptors, eliciting an innate immune response against this bacteria. The aim of study was to assess if polymorphisms TLR2, TLR4, TLR5, NOD1 NOD2 genes are associated with gastric cancer, in particular individuals infected H. pylori.A case-control 297 cancer patients 300 controls performed the association 17 polymorphisms. Analyses under allele...
Hereditary myopathies are a group of genetically determined muscle disorders comprising more than 300 entities. In Chile, there no specific registries the distinct forms these myopathies. We now report genetic findings series Chilean patients presenting with limb-girdle weakness unknown etiology. Eighty-two were explored using high-throughput sequencing approaches neuromuscular gene panels, establishing definite diagnosis in 49 (59.8%) and highly probable eight additional cases (9.8%). The...