A5004999876- BRCA gene mutations in cancer
- Nutrition, Genetics, and Disease
- Antiplatelet Therapy and Cardiovascular Diseases
- Pharmacogenetics and Drug Metabolism
- Diabetes Treatment and Management
- COVID-19 Clinical Research Studies
- Long-Term Effects of COVID-19
- Genomics and Rare Diseases
- SARS-CoV-2 and COVID-19 Research
- Inflammasome and immune disorders
- Higher Education Teaching and Evaluation
- Inflammatory mediators and NSAID effects
- Cancer Immunotherapy and Biomarkers
- CRISPR and Genetic Engineering
- Lipoproteins and Cardiovascular Health
- Educational theories and practices
- Pharmaceutical studies and practices
- Immune Cell Function and Interaction
- Biochemical and Molecular Research
- T-cell and B-cell Immunology
Universidad del Rosario
2021-2024
Spanish National Cancer Research Centre
2024
Abstract Coronavirus disease 2019 (COVID-19) was considered a major public health burden worldwide. Multiple studies have shown that susceptibility to severe infections and the development of long-term symptoms is significantly influenced by viral host factors. These findings highlighted potential genetic markers identify high-risk individuals develop target interventions reduce morbimortality. Despite its importance, factors remain largely understudied in Latin-American populations. Using...
Genetic and non-genetic factors are responsible for the high interindividual variability in response to SARS-CoV-2. Although numerous genetic polymorphisms have been identified as risk severe COVID-19, these remain understudied Latin-American populations. This study evaluated association of three polymorphisms:
In genes related to drug pharmacokinetics, molecular variations determine interindividual variability in the therapeutic efficacy and adverse reactions. The assessment of single-nucleotide variants (SNVs) is used with growing frequency pharmacogenetic practice, recently, high-throughput genomic analyses obtained through next-generation sequencing (NGS) have been recognized as powerful tools identify common, rare novel variants. These genetic profiles remain underexplored Latin-American...
Clopidogrel, an oral platelet P2Y12 receptor blocker, is used in the treatment of acute coronary syndrome. Interindividual variability response and occurrence adverse effects has been attributed to genetic variants CYP2C19. The analysis relevant pharmacogenes ethnically heterogeneous poorly studied populations contributes implementation personalized medicine. We analyzed coding regulatory regions CYP2C19 166 patients with syndrome (ACS) treated clopidogrel. allele frequencies alleles *1, *2,...
Purpose: Breast Cancer (BC) is the main female cancer diagnosed worldwide, and it has been described that few genes, such as BRCA1 , have a high penetrance for this type of cancer. In manuscript, we were interested in evaluating effect 3'UTR variants on expression. Patients Methods: To accomplish objective, Whole Exome Sequencing (WES) data 400 patients with unselected BC was used to filter located region interest gene, finding two them (c.*36C>G c.*369_373del). miRGate miRanda silico tools...
Clopidogrel is widely used worldwide as an antiplatelet therapy in patients with acute coronary disease. Genetic factors influence interindividual variability response. Some studies have explored the polygenic contributions drug response, generating pharmacogenomic risk scores (PgxPRS). Importantly, these are less underrepresented populations, such Latin-American countries. Identifying at of high-on-treatment platelet reactivity (HTPR) highly valuable translational medicine. In this study we...
Background: Genetic interindividual variability is associated with adverse drug reactions (ADRs) and affects the response to common drugs used in anesthesia. Despite their importance, these variants remain largely underexplored Latin-American countries. This study describes rare found genes related metabolism of analgesic anaesthetic Colombian population. Methods: We conducted a that included 625 healthy individuals. generated subset 14 implicated metabolic pathways medications anesthesia...
Objetivos: el cáncer de mama (CM) es la neoplasia más frecuente en Colombia. La supervivencia global a 5 años <80 %, siendo país latinoamericano con peor pronóstico. Las estrategias preventivas como identificación población riesgo síndrome CM y ovario hereditario (HBOC), tiene potencial reducir incidencia disminuir los diagnósticos estadios avanzados. mayoría estudios publicados colombiana, han evaluado variantes reportadas fundadoras, denominadas “Perfil Colombia” o seleccionada alta...
Colorectal cancer (CRC) is a prevalent cancer, ranking as the third most common. Recent advances in our understanding of molecular causes this disease have highlighted crucial role tumor immune evasion its initiation and progression. CTLA4, receptor that acts negative regulator T cell responses, plays pivotal process, genetic variations CTLA4 been linked to CRC susceptibility, prognosis, response therapy.We conducted case-control study involving 98 patients 424 controls. We genotyped c.-319C...
Abstract Introduction In Colombia Breast cancer (BC), is the most frequent and has highest mortality rate among all types of cancer. There are few studies genomic profile in unselected affected population by BC Colombia. Some these have only tested presence variants reported as founders named “Colombian Profile”.We conducted a large-scale analysis using Whole Exome Sequencing (WES) to evaluate germline mutations patients. Methods This trial included 299 female patients aged over 18 years...