43 results on '"Gutiérrez-Angulo, Melva"'
Search Results
2. In Silico Analysis of the Missense Variants of Uncertain Significance of CTNNB1 Gene Reported in GnomAD Database.
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Caballero-Avendaño, Arturo, Gutiérrez-Angulo, Melva, Ayala-Madrigal, María de la Luz, Moreno-Ortiz, José Miguel, González-Mercado, Anahí, and Peregrina-Sandoval, Jorge
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POST-translational modification , *GENETIC variation , *MISSENSE mutation , *DATABASES , *PROTEIN structure - Abstract
CTNNB1 pathogenic variants are related to the improper functioning of the WNT/β-catenin pathway, promoting the development of different types of cancer of somatic origin. Bioinformatics analyses of genetic variation are a great tool to understand the possible consequences of these variants on protein structure and function and their probable implication in pathologies. The objective of this study is to describe the impact of the missense variants of uncertain significance (VUS) of the CTNNB1 gene on structure and function of the β-catenin protein. The CTNNB1 variants were obtained from the GnomAD v2.1.1 database; subsequently, a bioinformatic analysis was performed using the VarSome, UCSC Genome Browser, UniProt, the Kinase Library database, and DynaMut2 platforms to evaluate clinical significance, gene conservation, consensus sites for post-translational modifications, and the dynamics and stability of proteins. The GnomAD v2.1.1 database included 826 variants of the CTNNB1 gene, of which 385 were in exons and exon/intron boundaries. Among these variants, 214 were identified as missense, of which 146 were classified as VUS. Notably, 12 variants were in proximity to consensus sites for post-translational modifications (PTMs). The in silico analysis showed a slight tendency towards probably pathogenic for c.59C>T (p.Ala20Val) and c.983T>C (p.Met328Thr) missense VUS. These findings provide possible functional implications of these variants in some types of cancer. [ABSTRACT FROM AUTHOR]
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- 2024
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3. KRAS Exon 2 Mutations in Patients with Sporadic Colorectal Cancer: Prevalence Variations in Mexican and Latin American Populations.
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Venegas-Rodríguez, José Luis, Hernández-Sandoval, Jesús Arturo, Gutiérrez-Angulo, Melva, Moreno-Ortiz, José Miguel, González-Mercado, Anahí, Peregrina-Sandoval, Jorge, Ramírez-Plascencia, Helen Haydee Fernanda, Flores-López, Beatriz Armida, Alvizo-Rodríguez, Carlos Rogelio, Valenzuela-Pérez, Jesús Alonso, Cervantes-Ortiz, Sergio, and Ayala-Madrigal, María de la Luz
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DNA analysis ,RESEARCH funding ,COLORECTAL cancer ,GENETIC mutation ,CONFIDENCE intervals - Abstract
Simple Summary: KRAS is one of the most prominent driver genes implicated in colorectal cancer (CRC), with mutations detected in 33% to 50% of CRC patients. Exon 2 harbors up to 98% of these mutations. Variants in this gene play crucial roles in the progression of the disease, influencing its development, clinical manifestations, and treatment election. This study elucidates a 17% prevalence of mutations in KRAS exon 2 among western Mexican patients with sporadic CRC. Furthermore, a 30% pooled prevalence of mutations in KRAS exon 2 was determined after analyzing an additional 16 studies from Latin America, encompassing 12,604 CRC patients. Due to advances in precision medicine treatments, knowing the pathogenic status of the KRAS gene will become imperative to optimally select targeted therapies. We searched for the prevalence of actionable somatic mutations in exon 2 of the KRAS gene in western Mexican patients with CRC. Tumor tissue DNA samples from 150 patients with sporadic CRC recruited at the Civil Hospital of Guadalajara were analyzed. Mutations in exon 2 of the KRAS gene were identified using Sanger sequencing, and the data were analyzed considering clinical–pathological characteristics. Variants in codon 12 (rs121913529 G>A, G>C, and G>T) and codon 13 (rs112445441 G>A) were detected in 26 patients (with a prevalence of 17%). No significant associations were found between these variants and clinical–pathological characteristics (p > 0.05). Furthermore, a comprehensive search was carried out in PubMed/NCBI and Google for the prevalence of KRAS exon 2 mutations in Latin American populations. The 17 studies included 12,604 CRC patients, with an overall prevalence of 30% (95% CI = 0.26–0.35), although the prevalence ranged from 13 to 43% across the different data sources. Determining the variation and frequency of KRAS alleles in CRC patients will enhance their potential to receive targeted treatments and contribute to the understanding of the genomic profile of CRC. [ABSTRACT FROM AUTHOR]
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- 2024
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4. Association of the SLC6A4 gene 5HTTLPR polymorphism and ADHD with epilepsy, gestational diabetes, and parental substance abuse in Mexican mestizo children
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Durán-González, Jorge, Leal-Ugarte, Evelia, Cruz-Alcalá, Leonardo Eleazar, Gutiérrez-Angulo, Melva, Gallegos-Arreola, Martha Patricia, Meza-Espinoza, Juan Pablo, Reyes-Zurita, Itzayana, Padilla-Macías, Patricia Lizbeth, del Campo, Edgar Cruz-Martín, and Peralta-Leal, Valeria
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- 2018
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5. Interaction of CCND2, CDKN1A, and POLD3 Variants in Mexican Patients with Colorectal Cancer
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Alvizo-Rodríguez, Carlos Rogelio, Flores-López, Beatriz Armida, Ayala-Madrigal, María de la Luz, Partida-Pérez, Miriam, Macías-Gómez, Nelly Margarita, Peregrina-Sandoval, Jorge, Suárez-Villanueva, Alexis Sayuri, Moreno-Ortiz, José Miguel, Cervantes-Ortiz, Sergio, Maciel-Gutiérrez, Víctor Manuel, and Gutiérrez-Angulo, Melva
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Cyclin-Dependent Kinase Inhibitor p21 ,Genotype ,Nucleotides ,Case-Control Studies ,Cyclin D2 ,Humans ,Colorectal Neoplasms ,Mexico ,Polymorphism, Single Nucleotide ,Original Article BASIC & TRANSLATIONAL ,DNA Polymerase III - Abstract
BACKGROUND: Colorectal cancer is the second cause of death by cancer around the world. Sporadic colorectal cancer is the most frequent (75%), and it is produced by the interaction of environmental, epigenetic, and genetic factors. The accumulation of single-nucleotide variants in genes associated with cell proliferation, DNA repair, and/or apoptosis could confer a risk to cancer. The aim of this study was to analyze the gene–gene interactions among CCND2 (rs3217901), CDKN1A (rs1059234 and rs1801270), and POLD3 (rs3824999) variants in Mexican patients with colorectal cancer. METHODS: We collected peripheral blood samples from 185 patients with sporadic colorectal cancer before treatment and from 185 unrelated blood donors as the reference group; all participants signed an informed consent form. DNA extraction was performed by Miller and Cetyltrimethylammonium bromide (CTAB)/ Dodecyltrimethylammonium bromide (DTAB) methods. Polymerase chain reaction–restriction fragment length polymorphism followed by polyacrylamide gel electrophoresis stained with AgNO(3) methods were used to identify the variants rs3217901, rs1059234, rs1801270, and rs3824999. Odds ratio and single-nucleotide variant interaction were determined by single-locus analysis and Multifactorial Dimensionality Reduction software, respectively. RESULTS: No association was found for CCND2 and CDKN1A variants; yet, a significant association for the GG genotype, G allele, and recessive and additive models for the POLD3 variant was observed (P < .05). The single-nucleotide variant–single-nucleotide variant interaction revealed the combination rs1059234, rs3217901, and rs3824999 as the best model and the comparison showed an increased risk (P < .05). CONCLUSION: Single-locus and gene–gene interaction analyses disclosed that both the rs3824999 (POLD3) variant and the combination of rs3217901 (CCND2), rs1059234 (CDKN1A), and rs3824999 (POLD3) genotypes increase the risk for colorectal cancer in Mexican population.
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- 2022
6. Serum nitric oxide concentration in generalized chronic and aggressive periodontitis in the Mexican population is not related to the severity of the disease.
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Fuentes-Lerma, Martha Graciela, Zamora-Pérez, Ana Lourdes, Robles-Gómez, Cecilia, Guerrero-Velázquez, Celia, Peregrina-Sandoval, Jorge, Gutiérrez-Angulo, Melva, and Mariaud-Schmidt, Rocío Patricia
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AGGRESSIVE periodontitis ,MEXICANS ,NITRIC oxide ,ENZYME-linked immunosorbent assay ,INFLAMMATION ,BONE resorption - Abstract
Copyright of Biomédica: Revista del Instituto Nacional de Salud is the property of Instituto Nacional de Salud of Colombia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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- 2023
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7. Polymorphisms of the XRCC1 gene and breast cancer risk in the Mexican population
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Macías-Gómez, Nelly M., Peralta-Leal, Valeria, Meza-Espinoza, Juan Pablo, Gutiérrez-Angulo, Melva, Durán-González, Jorge, Ramírez-González, Juan Manuel, Gaspar-Del Toro, Alejandra, Norberto-Rodríguez, Adolfo, and Leal-Ugarte, Evelia
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- 2015
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8. MDR1 C3435T Polymorphism in Mexican Children with Acute Lymphoblastic Leukemia and in Healthy Individuals
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LEAL-UGARTE, EVELIA, GUTIÉRREZ-ANGULO, MELVA, MACÍAS-GÓMEZ, NELLY M., PERALTA-LEAL, VALERIA, DURÁN-GONZÁLEZ, JORGE, DE LA LUZAYALA-MADRIGAL, MARÍA, PARTIDA-PÉREZ, MIRIAM, BARROS-NÚÑEZ, PATRICIO, RUIZ-DÍAZ, DINORAH, MORENO-ORTIZ, JOSÉ M., PEREGRINA-SANDOVAL, JORGE, and MEZA-ESPINOZA, JUAN PABLO
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- 2008
9. Interaction of CCND2, CDKN1A, and POLD3 Variants in Mexican Patients with Colorectal Cancer.
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Rogelio Alvizo-Rodríguez, Carlos, Armida Flores-López, Beatriz, Luz Ayala-Madrigal, María de la, Partida-Pérez, Miriam, Margarita Macías-Gómez, Nelly, Peregrina-Sandoval, Jorge, Sayuri Suárez-Villanueva, Alexis, Miguel Moreno-Ortiz, José, Cervantes-Ortiz, Sergio, Manuel Maciel-Gutiérrez, Víctor, and Gutiérrez-Angulo, Melva
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- 2022
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10. Variación somática intraindividual del polimorfismo rs669 del gen A2M en pacientes con cáncer colorrectal
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Ramírez-Plascencia, Helen Haydee Fernanda, Gutiérrez-Angulo, Melva, Suárez-Villanueva, Alexis Sayuri, Peregrina-Sandoval, Jorge, and Ayala-Madrigal, María de la Luz
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- 2020
11. Bioinformatic Analysis of the Effect of Silver Nanoparticles on Colorectal Cancer Cell Line.
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Martínez-Esquivias, Fernando, Gutiérrez-Angulo, Melva, Becerra-Ruiz, Julieta Saraí, Martinez-Perez, Luz Andrea, de la Cruz-Ahumada, Claudia Jackelin, and Guzmán-Flores, Juan Manuel
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DATABASES , *ADENOCARCINOMA , *SYSTEMATIC reviews , *HEALTH outcome assessment , *KILLER cells , *CELL physiology , *METABOLISM , *PROTEOMICS , *BIOINFORMATICS , *GENE expression , *GENES , *CELL lines , *T cells , *SILVER , *NANOPARTICLES - Abstract
Colorectal cancer (CRC) is the most diagnosed cancer with the highest mortality rate each year globally. Although there are treatments for CRC, the development of resistance to therapies decreases the success of treatments. In vitro studies using the Caco-2 cell line have revealed the anticancer properties of silver nanoparticles (AgNPs) as a possible treatment for this disease. This study considered four researches that evaluated the proteomic profiles of cells of the Caco-2 line exposed to AgNPs. We performed a bioinformatics analysis to predict protein-protein interaction, hub genes, Gene Ontology (molecular function, biological process, and cellular components), KEGG pathways, analysis of expression, and immune cell infiltration. For these analyses, the STRING, DAVID, UALCAN, GEPIA2, and TISIDB databases were used. The results in Gene Ontology show that AgNPs cause a deregulation of genes related to cell-cell adhesion, the cytoplasm, the centriole, and carbon metabolism. Hub genes were identified, including GADPH, ENO1, EEF2, and ATP5A1, which showed differential expression in patients with adenocarcinoma of the colon and rectum. Additionally, the expression of the hub genes and immune cells was correlated. It was found that ATP5A1 and ENO1 were positively correlated with the infiltration of CD4+ T lymphocytes in colon adenocarcinoma and a negative correlation between GADPH and PDIA3 with the infiltration of NK cells and CD4+ T lymphocytes in rectal adenocarcinoma, respectively. In conclusion, the administration of AgNPs causes an alteration of biological processes, cellular components, metabolic pathways, deregulation of hub genes, and the activity of immune cells leading to a potential anticancer effect. [ABSTRACT FROM AUTHOR]
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- 2022
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12. Association between genetic variant rs2267716 of gene with colorectal cancer.
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Ramírez-Guerrero, Angélica Araceli, González-Villaseñor, Christian Octavio, Leal-Ugarte, Evelia, Gutiérrez-Angulo, Melva, Ramírez-Flores, Mario, Delgado-Enciso, Iván, and Macías-Gómez, Nelly Margarita
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CORTICOTROPIN releasing hormone ,CROSS-sectional method ,CELL receptors ,ALLELES ,CASE-control method ,GENETIC polymorphisms ,COLORECTAL cancer ,DISEASE susceptibility - Abstract
Colorectal cancer (CRC) is the third most common cancer and one of the main causes of death around the world. Multiple lines of evidence have suggested the role of the corticotropin-releasing hormone (CRH) family in CRC induction, including the low expression of corticotropin-releasing hormone receptor 2 (CRHR2), which is an angiogenesis inhibitor and inflammatory modulator. Previous research suggests that CRHR2 expression in colonic intestinal cells can regulate migration, proliferation and apoptosis through the modulation of several pathways. The aim of this study was to analyze the association of the rs10250835, rs2267716 and rs2267717 variants of CRHR2 gene with CRC in the Mexican population in order to consider its predictive value in CRC. This cross-sectional study included a group of 187 unrelated patients with sporadic CRC and a control group of 191 healthy blood donors. DNA extraction from peripheral blood was carried out using the Miller method. Identification of the rs10250835 variant was performed using PCR-restriction fragment length polymorphism (RFLP) and the rs2267716 and rs2267717 variants using TaqMan allelic discrimination assay. The minor allele homozygous CC of the rs2267716 variant of CRHR2 showed significant difference between CRC and control group (p=0.025), as well as the GCA haplotype (p=0.007), corresponding to the rs10250835, rs2267716 and rs2267717 variants, respectively. Our results suggest that the rs2267716 variant and GCA haplotype of CRHR2 represent a risk factor for CRC development in Mexican patients. [ABSTRACT FROM AUTHOR]
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- 2022
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13. Cardio-facio-cutaneous syndrome with hemihidrosis: ectodermal dysplasias spectrum?
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Leal-Ugarte, Evelia, Macías-Gómez, Nelly Margarita, Gutiérrez-Angulo, Melva, and Barros-Núñez, Patricio
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- 2006
14. 46,XX ovotesticular disorder in a Mexican patient with Beckwith–Wiedemann syndrome: a case report
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Macías-Gómez Nelly, Leal-Ugarte Evelia, Gutiérrez-Angulo Melva, Domínguez-Quezada Guadalupe, Rivera Horacio, and Barros-Núñez Patricio
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Medicine - Abstract
Abstract Introduction Beckwith–Wiedemann syndrome is an overgrowth syndrome that is characterized by hypoglycemia at birth, coarse face, hemihypertrophy and an increased risk to develop embryonal tumors. In approximately 15% of patients, the inheritance is autosomal dominant with variable expressivity and incomplete penetrance, whereas the remainder of Beckwith–Wiedemann syndrome cases are sporadic. Beckwith–Wiedemann syndrome molecular etiologies are complex and involve the two imprinting centers 1 (IC1) and 2 (IC2) of 11p15 region. This case report describes, for the first time, the unusual association of ovotesticular disorder in a patient from Morelia, Mexico with Wiedemann-Beckwith syndrome. Case presentation We report the case of a Mexican six-year-old girl with Beckwith–Wiedemann Syndrome, ambiguous genitalia, and bilateral ovotestes. She has a 46,XX karyotype without evidence of Y-chromosome sequences detected by fluorescence in situ hybridization with both SRY and wcp-Y probes. Conclusion Although a random association between these two conditions cannot be excluded, future analysis of this patient with Beckwith–Wiedemann syndrome and 46,XX ovotesticular disorder may lead to new insights into these complex pathologies. We speculate that a possible misregulation in the imprinted genes network has a fundamental role in the coexistence of these two disorders.
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- 2012
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15. True vs. false inv(Y)(p11q11.2): a familial instance concurrent with trisomy 21
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Rivera, Horacio, Gutiérrez-Angulo, Melva, Gómez-Sánchez, Hilda, Macías-Gómez, Nelly, and Barros-Núñez, Patricio
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- 2002
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16. del(X)(p22.1)/r(X)(p22.1q28) dynamic mosaicism in a Turner syndrome patient
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Gutiérrez-Angulo, Melva, Lazalde, Brissia, Vasquez, Ana I, Leal, Caridad, Corral, Elisa, and Rivera, Horacio
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- 2002
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17. Prevalence of the p.v600e variant in patients with colorectal cancer from Mexico and its estimated frequency in Latin American and Caribbean populations.
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Arturo Hernández-Sandova, Jesús, Gutiérrez-Angulo, Melva, Magaña-Torres, María Teresa, Rogelio Alvizo-Rodríguez, Carlos, Fernanda Ramírez-Plascencia, Helen Haydee, Armida Flores-López, Beatriz, Alonso Valenzuela-Pérez, Jesús, Peregrina-Sandoval, Jorge, Miguel Moreno-Ortiz, José, Domínguez-Valentín, Mev, Ayala-Madrigal, María de la Luz, Hernández-Sandoval, Jesús Arturo, Alvizo-Rodríguez, Carlos Rogelio, Ramírez-Plascencia, Helen Haydee Fernanda, Flores-López, Beatriz Armida, Valenzuela-Pérez, Jesús Alonso, and Moreno-Ortiz, José Miguel
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This study aimed to investigate the frequency of the somatic BRAF p.V600E in patients with colorectal cancer (CRC) in Mexico and compare it with those estimated for Latin American and Caribbean populations. One hundred and one patients with CRC with AJCC stages ranging I-IV from Western Mexico were included, out of which 55% were male and 61% had AJCC stage III-IV, with a mean age of 60 years. PCR-Sanger sequencing was used to identify the BRAF p.V600E variant. In addition, a systematic literature search in PubMed/Medline database and Google of the 42 countries in Latin America and the Caribbean led to the collection of information on the BRAF p.V600E variant frequency of 17 population reports. To compare the BRAF variant prevalence among populations, a statistical analysis was performed using GraphPad Prism V.6.0. We found that 4% of patients with CRC were heterozygous for the p.V600E variant. The χ2 test showed no significant difference (p>0.05) in p.V600E detection when comparing with other Latin American and Caribbean CRC populations, except for Chilean patients (p=0.02). Our observational study provides the first evidence on the frequency of BRAF p.V600E in patients with CRC from Western Mexico, which is 4%, but increases to 7.8% for all of Latin America and the Caribbean. The patient mean age and genetic descent on the observed frequencies of the variant in populations could influence the frequency differences. [ABSTRACT FROM AUTHOR]
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- 2020
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18. Somatic deletion of KDM1A/LSD1 gene is associated to advanced colorectal cancer stages.
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Ramírez-Ramírez, Ruth, Gutiérrez-Angulo, Melva, Peregrina-Sandoval, Jorge, Moreno-Ortiz, José Miguel, Franco-Topete, Ramon Antonio, Cerda-Camacho, Felipe de Jesús, and Ayala-Madriga, Maria de la Luz
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DELETION mutation ,TUMOR classification ,COLORECTAL cancer ,CANCER genetics ,MEDICAL sciences ,GENE amplification - Published
- 2020
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19. Chromosome 9qh inversions may not be true inversions
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Rivera, Horacio, Gutiérrez-Angulo, Melva, and González-Garcia, Juan Ramón
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- 1999
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20. ADIPOQ rs2241766 SNP as protective marker against DIBC development in Mexican population.
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Macías-Gómez, Nelly Margarita, Hernández-Terrones, María Carmen, Ramírez-Guerrero, Angélica Araceli, Leal-Ugarte, Evelia, Gutiérrez-Angulo, Melva, and Peregrina-Sandoval, Jorge
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ADIPONECTIN ,POPULATION - Abstract
Background: Adiponectin protein and some variations in its gene, ADIPOQ have recently been associated with cancer because they regulate glucose and lipid metabolism as well as anti-apoptotic and anti-inflammatory proteins. Aim: The aim of this study was to analyse the relationship between selected biochemical markers, anthropometric indices and ADIPOQ rs2241766 and rs1501299 SNPs in ductal infiltrating breast cancer (DIBC) in a Mexican population. Methods: This cross-sectional study included 64 DIBC patients and 167 healthy women. Polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) analysis was performed to identify the genotypes of the rs2241766 (exon 2) and rs1501299 (intron 2) ADIPOQ polymorphisms. Corporal composition and biochemical markers included body mass index (BMI), waist circumference (WC), hip circumference (HC), waist-hip ratio (WHR), glucose, cholesterol, triglycerides and high- and low-density lipoprotein cholesterol. Results: Patients with DIBC had higher serum glucose, WC and WHR than controls. Intergroup differences in allele and genotype frequencies were found for both polymorphisms (P < 0.05). Patients carrying the rs2241766 TT and TG genotypes had higher values of WC, HC and WHR, but only TG carriers had higher levels of glucose. For the SNP rs1501299, carriers of the GG genotype in the DIBC group had higher values of glucose, WC, HC and WHR than the respective control group. Conclusions: These results suggest that WC, HC and WHR are better predictors of DIBC than BMI. The ADIPOQ SNP rs2241766 emerges as a protective factor, whereas rs1501299 is a risk factor for DIBC development in a Mexican population. [ABSTRACT FROM AUTHOR]
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- 2019
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21. Intra-individual somatic variation of the rs669 polymorphism in the A2M gene in patients with colorectal cancer.
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Ramírez-Plascencia, Helen Haydee Fernanda, Gutiérrez-Angulo, Melva, Suárez-Villanueva, Alexis Sayuri, Peregrina-Sandoval, Jorge, and Ayala-Madrigal, María de la Luz
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COLORECTAL cancer ,SOMATIC mutation ,GENETIC polymorphisms ,CANCER patients ,CANCER case studies - Published
- 2020
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22. A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.
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Rossi, Benedito Mauro, Palmero, Edenir Inêz, López-Kostner, Francisco, Sarroca, Carlos, Vaccaro, Carlos Alberto, Spirandelli, Florencia, Ashton-Prolla, Patricia, Rodriguez, Yenni, de Campos Reis Galvão, Henrique, Reis, Rui Manuel, de Paula, André Escremim, Capochin Romagnolo, Luis Gustavo, Alvarez, Karin, Della Valle, Adriana, Neffa, Florencia, Kalfayan, Pablo German, Spirandelli, Enrique, Chialina, Sergio, Gutiérrez Angulo, Melva, and Castro-Mujica, Maria del Carmen
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GENETIC counseling ,HEREDITARY nonpolyposis colorectal cancer ,CANCER patient care ,CANCER patients -- Social conditions ,HEALTH planning ,PATIENT participation ,PATIENTS - Abstract
Background: Genetic counselling and testing for Lynch syndrome (LS) have recently been introduced in several Latin America countries. We aimed to characterize the clinical, molecular and mismatch repair (MMR) variants spectrum of patients with suspected LS in Latin America.Methods: Eleven LS hereditary cancer registries and 34 published LS databases were used to identify unrelated families that fulfilled the Amsterdam II (AMSII) criteria and/or the Bethesda guidelines or suggestive of a dominant colorectal (CRC) inheritance syndrome.Results: We performed a thorough investigation of 15 countries and identified 6 countries where germline genetic testing for LS is available and 3 countries where tumor testing is used in the LS diagnosis. The spectrum of pathogenic MMR variants included MLH1 up to 54%, MSH2 up to 43%, MSH6 up to 10%, PMS2 up to 3% and EPCAM up to 0.8%. The Latin America MMR spectrum is broad with a total of 220 different variants which 80% were private and 20% were recurrent. Frequent regions included exons 11 of MLH1 (15%), exon 3 and 7 of MSH2 (17 and 15%, respectively), exon 4 of MSH6 (65%), exons 11 and 13 of PMS2 (31% and 23%, respectively). Sixteen international founder variants in MLH1, MSH2 and MSH6 were identified and 41 (19%) variants have not previously been reported, thus representing novel genetic variants in the MMR genes. The AMSII criteria was the most used clinical criteria to identify pathogenic MMR carriers although microsatellite instability, immunohistochemistry and family history are still the primary methods in several countries where no genetic testing for LS is available yet.Conclusion: The Latin America LS pathogenic MMR variants spectrum included new variants, frequently altered genetic regions and potential founder effects, emphasizing the relevance implementing Lynch syndrome genetic testing and counseling in all of Latin America countries. [ABSTRACT FROM AUTHOR]- Published
- 2017
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23. Novel Mutations in MLH1 and MSH2 Genes in Mexican Patients with Lynch Syndrome.
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Moreno-Ortiz, Jose Miguel, Ayala-Madrigal, María de la Luz, Corona-Rivera, Jorge Román, Centeno-Flores, Manuel, Maciel-Gutiérrez, Víctor, Franco-Topete, Ramón Antonio, Armendáriz-Borunda, Juan, Hotchkiss, Erin, Pérez-Carbonell, Lucia, Rhees, Jennifer, Boland, Clement Richard, and Gutiérrez-Angulo, Melva
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HEREDITARY nonpolyposis colorectal cancer ,DIAGNOSIS of hereditary nonpolyposis colorectal cancer ,MLH1 gene ,MSH2 gene ,IMMUNOSTAINING ,COLON cancer ,HIGH performance liquid chromatography ,PATIENTS - Abstract
Background. Lynch Syndrome (LS) is characterized by germline mutations in the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2. This syndrome is inherited in an autosomal dominant pattern and is characterized by early onset colorectal cancer (CRC) and extracolonic tumors. The aim of this study was to identify mutations in MMR genes in three Mexican patients with LS. Methods. Immunohistochemical analysis was performed as a prescreening method to identify absent protein expression. PCR, Denaturing High Performance Liquid Chromatography (dHPLC), and Sanger sequencing complemented the analysis. Results. Two samples showed the absence of nuclear staining for MLH1 and one sample showed loss of nuclear staining for MSH2. The mutations found in MLH1 gene were c.2103+1G>C in intron 18 and compound heterozygous mutants c.1852_1854delAAG (p.K618del) and c.1852_1853delinsGC (p.K618A) in exon 16. In the MSH2 gene, we identified mutation c.638dupT (p.L213fs) in exon 3. Conclusions. This is the first report of mutations in MMR genes in Mexican patients with LS and these appear to be novel. [ABSTRACT FROM AUTHOR]
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- 2016
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24. Analysis of ERCC1 and ERCC2 gene variants in osteosarcoma, colorectal and breast cancer.
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GÓMEZ-DÍAZ, BENJAMÍN, DE LA LUZ AYALA-MADRIGAL, MARÍA, GUTIÉRREZ-ANGULO, MELVA, VALLE-SOLIS, AURA ERAZO, LINARES-GONZÁLEZ, LUIS MIGUEL, GONZÁLEZ-GUZMÁN, ROBERTO, CRUZ-GUILLÉN, DAVID, CEDEÑO-GARCIDUEÑAS, ANA LILIA, CANTO, PATRICIA, and LÓPEZ-HERNÁNDEZ, LUZ BERENICE
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CANCER genes ,CANCER research ,OSTEOSARCOMA ,GENOTYPES ,BREAST cancer - Abstract
The Asn118Asn (rs11615) variant in the ERCC1 gene, and the Lys751Gln (rs13181) and Asp312Asn (rs1799793) variants in the ERCC2 gene have been associated with the development of varied types of cancer. The aim of the present study was to test for any association between the ERCC1 and ERCC2 gene variants and three different types of cancer in Mexican-mestizo patients. Patients and their respective controls were formed into three groups: The osteosarcoma group, with 28 patients and 97 controls; the colorectal group, with 108 patients and 119 controls; and the breast cancer group, with 71 patients and 74 controls. Genotyping was performed using TaqMan probes and quantitative polymerase chain reaction. Allele and genotype frequencies were compared using a X² test. Only one SNP (rs1799793) was found to be associated with breast cancer. This is the first study analyzing the SNPs in ERCC1 and ERCC2 genes and the susceptibility to cancer in Mexican-mestizo patients with osteosarcoma, and colorectal and breast cancer. [ABSTRACT FROM AUTHOR]
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- 2015
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25. A t(1;9)(q23.3∼q25;q34) affecting the ABL1 gene in a biphenotypic leukemia
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Ramón González Garcı́a, Juan, Bohlander, Stefan K., Gutiérrez Angulo, Melva, Amparo Esparza Flores, Marı́a, Judith Picos Cárdenas, Verónica, Pablo Meza Espinoza, Juan, de la Luz Ayala Madrigal, Marı́a, and Rivera, Horacio
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- 2004
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26. Secondary chromosomal changes in 34 Philadelphia-chromosome–positive chronic myelocytic leukemia patients from the Mexican West
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Meza Espinoza, Juan Pablo, Judith Picos Cárdenas, Verónica, Gutiérrez-Angulo, Melva, and González Garcı́a, Juan Ramón
- Published
- 2004
- Full Text
- View/download PDF
27. Association of LEP and ADIPOQ common variants with colorectal cancer in Mexican patients.
- Author
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Partida-Pérez, Miriam, Ayala-Madrigal, María de la Luz, Peregrina-Sandoval, Jorge, Macías-Gomez, Nelly, Moreno-Ortiz, José, Leal-Ugarte, Evelia, Cárdenas-Meza, Mario, Centeno-Flores, Manuel, Maciel-Gutiérrez, Víctor, Cabrales, Enrique, Cervantes-Ortiz, Sergio, and Gutiérrez-Angulo, Melva
- Subjects
LEPTIN ,CYTOKINES ,TUMOR growth ,GENETIC polymorphisms ,BLOOD donors - Abstract
Leptin and adiponectin are cytokines produced by adipose tissue with opposite effects on tumor growth: the former stimulate whereas the latter inhibit it. The objective was to analyze the association of LEP A19G and ADIPOQ+45 T/G and +276 G/T polymorphisms in Mexican patients with colorectal cancer (CRC). 68 unrelated patients with CRC (study group) and 102 blood donors (control group); all subjects were Mestizos from western Mexico. The polymorphisms were established by PCR-RFLP on DNA samples obtained from peripheral blood. The LEP A19G polymorphism showed significant differences between CRC patients and control group (p= 0.01 for G/A genotype and p= 0.02 for the recessive model G/G +G/A); yet, in the analysis stratified by gender, this difference remained significant only in males. The ADIPOQ polymorphisms did not shown any significant differences. Our results suggest that the A19G LEP polymorphism is associated with CRC in Mexican patients. [ABSTRACT FROM AUTHOR]
- Published
- 2011
- Full Text
- View/download PDF
28. Prevalence of the BCR/ABL1 transcripts in Mexican patients with chronic myelogenous leukemia.
- Author
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Meza-Espinoza, Juan Pablo, Gutiérrez-Angulo, Melva, Vázquez-Cárdenas, Alejandra, Delgado-Lamas, José Luis, Esparza-Flores, María Amparo, and González-García, Juan Ramón
- Published
- 2007
29. Promoter polymorphism of the serotonin transporter gene influences the number of sexual partners and smoking habits in a Mexican Mestizo population.
- Author
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Peralta-Leal, Valeria, Leal-Ugarte, Evelia, Gutiérrez-Angulo, Melva, Dávalos-Rodríguez, Ingrid P., Gallegos-Arreola, Martha P., Meza-Espinoza, Juan P., Torres-Benavides, Helma G., Peregrina-Sandoval, Jorge, Villarreal-Sotelo, Karla, Ondarza Rodríguez, Marina M., Nairi, Saraswathy, and Durán-González, Jorge
- Published
- 2015
- Full Text
- View/download PDF
30. Association of serotonin transporter gene polymorphism 5-HTTLPR and depressive disorder in a Mexican population.
- Author
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Peralta-Leal, Valeria, Leal-Ugarte, Evelia, Meza-Espinoza, Juan P., Gutiérrez-Angulo, Melva, Hernández-Benítez, Catalina T., García-Rodríguez, Alfonso, Dávalos-Rodríguez, Ingrid P., Gonzales, Enrique, and Durán-González, Jorge
- Published
- 2012
- Full Text
- View/download PDF
31. Serum nitric oxide concentration in generalized chronic and aggressive periodontitis in the Mexican population is not related to the severity of the disease
- Author
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Fuentes-Lerma MG, Zamora-Pérez AL, Robles-Gómez C, Guerrero-Velázquez C, Peregrina-Sandoval J, Gutiérrez-Angulo M, and Mariaud-Schmidt RP
- Abstract
Introduction: Periodontitis is an inflammatory disease that affects the supporting tissues of teeth, the effects of excess of nitric oxide, may contribute to the symptoms of periodontitis. Objective: To determine the serum nitric oxide concentration in generalized chronic and aggressive periodontitis patients and to compare it with a healthy subject group from the Mexican population. Materials and methods: A case and control study was performed. Sixty-nine individuals were recruited from the Clínica de Posgrado de Periodoncia of the Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, México. Patients with clinical features of generalized chronic periodontitis (GCP group, n=19), generalized aggressive periodontitis (GAP group, n=11), and a group of healthy subjects (HS group, n=39) were included in the study. Informed consent was obtained from each subject, and serum nitric oxide concentration was measured by an enzyme-linked immunosorbent assay. Results: Nitric oxide concentration in the study groups was greater in the GCP group (462.57 ± 16.57 μmol/L) than in the GAP group (433.84 ± 18.61 μmol/L) and the HS group (422.46 ± 12.07 μmol/L). A comparison using Student’s t-test (one-tailed) between healthy subjects and generalized chronic periodontitis showed borderline significance (p<0.04), whereas no significant differences were observed in HS and GAP groups, with a p-value of 0.64, and the GAP vs. GCP p-value was 0.33. Conclusion: The serum nitric oxide concentration observed in the present study suggests that nitric oxide plays a major role in the inflammatory process, which cannot necessarily be linked to the severity of the disease and periodontal tissue destruction.
- Published
- 2023
- Full Text
- View/download PDF
32. Epidemiology of environmental factors related to beta-catenin pathway and its impact on the development and progression of colorectal cancer.
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Caballero-Avendaño A, Ramírez-García SA, Gutiérrez-Angulo M, Cabrera-Pivaral CE, Dávalos-Rodríguez NO, and Rincón-Sánchez AR
- Subjects
- Humans, beta Catenin metabolism, Risk Factors, Obesity complications, Signal Transduction, Gene Expression Regulation, Neoplastic, Colorectal Neoplasms etiology, Colorectal Neoplasms genetics
- Abstract
Colorectal cancer (CRC) is a complex disease, determined by genetic, environmental and lifestyle-associated risk factors. Genetic (inherited) factors have great influence on its development; however, most cases of CRC are sporadic and gradually develop over several years. The main environmental risk factors are associated with b-catenin signaling pathway, including obesity, lack of physical activity, consumption of red and processed meats, alcoholism, and smoking. The pathway is related to cell homeostasis regulation and cell self-renewal during embryogenesis and adulthood. The main recommendation for preventing the development of CRC is to reduce the risk factors, increase the consumption of fruits, vegetables and grains, exercise regularly and limit the consumption of both alcohol and tobacco. However, family history and the presence of a hereditary syndrome increase the risk, which is why carrying out periodic examinations to detect CRC is suggested, using development predictors such as biochemical and molecular markers, which are discussed in this work., (Copyright: © 2023 Permanyer.)
- Published
- 2023
- Full Text
- View/download PDF
33. Molecular Profiling of Tumor Tissue in Mexican Patients with Colorectal Cancer.
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Flores-López BA, Ayala-Madrigal ML, Moreno-Ortiz JM, Peregrina-Sandoval J, Trujillo-Rojas MÁ, Venegas-Rodríguez JL, Hernández-Ramírez R, Fernández-Galindo MA, and Gutiérrez-Angulo M
- Abstract
Colorectal cancer is a heterogeneous disease with multiple genomic changes that influence the clinical management of patients; thus, the search for new molecular targets remains necessary. The aim of this study was to identify genetic variants in tumor tissues from Mexican patients with colorectal cancer, using massive parallel sequencing. A total of 4813 genes were analyzed in tumoral DNA from colorectal cancer patients, using the TruSight One Sequencing panel. From these, 192 variants with clinical associations were found distributed in 168 different genes, of which 46 variants had not been previous reported in the literature or databases, although genes harboring those variants had already been described in colorectal cancer. Enrichment analysis of the affected genes was performed using Reactome software; pathway over-representation showed significance for disease, signal transduction, and immune system subsets in all patients, while exclusive subsets such as DNA repair, autophagy, and RNA metabolism were also found. Those characteristics, whether individual or shared, could give tumors specific capabilities for survival, aggressiveness, or response to treatment. Our results can be useful for future investigations targeting specific characteristics of tumors in colorectal cancer patients. The identification of exclusive or common pathways in colorectal cancer patients could be important for better diagnosis and personalized cancer treatment.
- Published
- 2022
- Full Text
- View/download PDF
34. Interaction of CCND2, CDKN1A, and POLD3 Variants in Mexican Patients with Colorectal Cancer.
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Alvizo-Rodríguez CR, Flores-López BA, Ayala-Madrigal ML, Partida-Pérez M, Macías-Gómez NM, Peregrina-Sandoval J, Suárez-Villanueva AS, Moreno-Ortiz JM, Cervantes-Ortiz S, Maciel-Gutiérre VM, and Gutiérrez-Angulo M
- Subjects
- Case-Control Studies, Cyclin D2 genetics, Cyclin-Dependent Kinase Inhibitor p21 genetics, DNA Polymerase III, Genotype, Humans, Mexico, Nucleotides, Colorectal Neoplasms epidemiology, Colorectal Neoplasms genetics, Polymorphism, Single Nucleotide
- Abstract
Background: Colorectal cancer is the second cause of death by cancer around the world. Sporadic colorectal cancer is the most frequent (75%), and it is produced by the interaction of environmental, epigenetic, and genetic factors. The accumulation of single-nucleotide variants in genes associated with cell proliferation, DNA repair, and/or apoptosis could confer a risk to cancer. The aim of this study was to analyze the gene-gene interactions among CCND2 (rs3217901), CDKN1A (rs1059234 and rs1801270), and POLD3 (rs3824999) variants in Mexican patients with colorectal cancer., Methods: We collected peripheral blood samples from 185 patients with sporadic colorectal cancer before treatment and from 185 unrelated blood donors as the reference group; all participants signed an informed consent form. DNA extraction was performed by Miller and Cetyltrimethylammonium bromide (CTAB)/ Dodecyltrimethylammonium bromide (DTAB) methods. Polymerase chain reaction- restriction fragment length polymorphism followed by polyacrylamide gel electrophoresis stained with AgNO3 methods were used to identify the variants rs3217901, rs1059234, rs1801270, and rs3824999. Odds ratio and single-nucleotide variant interaction were determined by single-locus analysis and Multifactorial Dimensionality Reduction software, respectively., Results: No association was found for CCND2 and CDKN1A variants; yet, a significant association for the GG genotype, G allele, and recessive and additive models for the POLD3 variant was observed (P < .05). The single-nucleotide variant-single-nucleotide variant interaction revealed the combination rs1059234, rs3217901, and rs3824999 as the best model and the comparison showed an increased risk (P < .05)., Conclusion: Single-locus and gene-gene interaction analyses disclosed that both the rs3824999 (POLD3) variant and the combination of rs3217901 (CCND2), rs1059234 (CDKN1A), and rs3824999 (POLD3) genotypes increase the risk for colorectal cancer in Mexican population.
- Published
- 2022
- Full Text
- View/download PDF
35. Association between genetic variant rs2267716 of CRHR2 gene with colorectal cancer.
- Author
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Ramírez-Guerrero AA, González-Villaseñor CO, Leal-Ugarte E, Gutiérrez-Angulo M, Ramírez-Flores M, Delgado-Enciso I, and Macías-Gómez NM
- Subjects
- Alleles, Case-Control Studies, Cross-Sectional Studies, Genetic Predisposition to Disease, Humans, Polymorphism, Single Nucleotide genetics, Receptors, Corticotropin-Releasing Hormone genetics, Receptors, Corticotropin-Releasing Hormone metabolism, Colorectal Neoplasms genetics, Corticotropin-Releasing Hormone genetics
- Abstract
Colorectal cancer (CRC) is the third most common cancer and one of the main causes of death around the world. Multiple lines of evidence have suggested the role of the corticotropin-releasing hormone (CRH) family in CRC induction, including the low expression of corticotropin-releasing hormone receptor 2 ( CRHR2 ), which is an angiogenesis inhibitor and inflammatory modulator. Previous research suggests that CRHR2 expression in colonic intestinal cells can regulate migration, proliferation and apoptosis through the modulation of several pathways. The aim of this study was to analyze the association of the rs10250835, rs2267716 and rs2267717 variants of CRHR2 gene with CRC in the Mexican population in order to consider its predictive value in CRC. This cross-sectional study included a group of 187 unrelated patients with sporadic CRC and a control group of 191 healthy blood donors. DNA extraction from peripheral blood was carried out using the Miller method. Identification of the rs10250835 variant was performed using PCR-restriction fragment length polymorphism (RFLP) and the rs2267716 and rs2267717 variants using TaqMan allelic discrimination assay. The minor allele homozygous CC of the rs2267716 variant of CRHR2 showed significant difference between CRC and control group (p=0.025), as well as the GCA haplotype (p=0.007), corresponding to the rs10250835, rs2267716 and rs2267717 variants, respectively. Our results suggest that the rs2267716 variant and GCA haplotype of CRHR2 represent a risk factor for CRC development in Mexican patients., Competing Interests: Competing interests: None declared., (© American Federation for Medical Research 2022. No commercial re-use. See rights and permissions. Published by BMJ.)
- Published
- 2022
- Full Text
- View/download PDF
36. Anticancer Activity of Selenium Nanoparticles In Vitro Studies.
- Author
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Martínez-Esquivias F, Gutiérrez-Angulo M, Pérez-Larios A, Sánchez-Burgos JA, Becerra-Ruiz JS, and Guzmán-Flores JM
- Subjects
- Apoptosis, Cell Line, Tumor, Humans, Male, Antineoplastic Agents chemistry, Nanoparticles chemistry, Selenium chemistry, Selenium pharmacology
- Abstract
Health systems worldwide consider cancer a disease that causes the highest number of deaths per year. The low efficacy of current cancer therapies has led other areas of science to search for new alternatives, including nanomaterial sciences. Selenium nanoparticles have anticancer activity, as revealed by in vitro tests performed on prostate, breast, cervical, lung, colorectal, and liver cancer cell lines. Studies attribute anticancer activity to the anti-metastatic effect due to the inhibition of migration and invasion processes. The antiproliferative effect is the low expression of molecules such as cyclin D1, cyclin E, and CDK2. In addition to the activation of cell apoptosis by caspase-dependent mechanisms, there is a low expression of anti-apoptotic proteins such as Bcl-2 and a high expression of the apoptotic proteins like Bax and Bad. Other studies attribute anticancer activity to the activation of cell necroptosis, where molecules such as TNF and IRF1 participate. The pharmacological potential of selenium nanoparticles depends primarily on the administered dose, particle size, and chemical composition. Furthermore, several studies have shown that the administration of these nanoparticles is safe due to their low toxicity in non-cancerous cells. In this review, the most relevant antecedents on the anticancer potential of selenium nanoparticles in prostate, breast, cervical, lung, liver, and colorectal cancer cell lines are discussed., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)
- Published
- 2022
- Full Text
- View/download PDF
37. Matrix metalloproteinases 7, 8, 12, 13 gene haplotypes associated with colorectal cancer in a Mexican population.
- Author
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Moreno-Ortiz JM, Gutiérrez-Angulo M, Ramírez-Ramírez R, González-Mercado A, Suárez-Villanueva AS, Partida-Pérez M, Maciel-Gutiérrez V, and Ayala-Madrigal ML
- Subjects
- Haplotypes, Humans, Matrix Metalloproteinases genetics, Polymorphism, Single Nucleotide, Colorectal Neoplasms genetics, Genetic Predisposition to Disease
- Abstract
Background: Matrix metalloproteinases (MMPs) are involved in tumor invasion and progression in colorectal cancer (CRC). Variants rs11568818, rs11225395, rs2276109 and rs2252070 have been associated with this neoplasm., Objective: To evaluate MMPs 7, 8, 12, and 13 haplotypes and their association with CRC., Material and Methods: One-hundred and four patients and 112 healthy individuals were genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis (PCR-RFLP). For the association analysis, odds ratio and confidence interval values were calculated. Haplotype and linkage disequilibrium (LD) analysis was performed with Arlequin software, v3.5., Results: LD was present between rs2276109 and rs2252070. Haplotypes rs11568818(A)-rs11225395(T)-rs2276109(A)-rs2252070(A) and rs11568818(A)-rs11225395(C)-rs2276109(A)-rs2252070(G) were associated with CRC risk, and haplotypes rs11568818(G)-rs11225395(C)-rs2276109(A)-rs2252070(A) and rs11568818(A)-rs11225395(T)-rs2276109(A)-rs2252070(G), with protection., Conclusion: Variants rs2276109 and rs2252070 showed genetic linkage. Two haplotypes were associated with the development of CRC (ATAA and ACAG) and two were associated with protection (GCAA and ATAG). This study represents the first report on variants rs11225395 and rs2276109 frequency in a Mexican population., (Copyright: © 2021 Permanyer.)
- Published
- 2021
- Full Text
- View/download PDF
38. High frequency of MLH1 promoter methylation mediated by gender and age in colorectal tumors from Mexican patients.
- Author
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Moreno-Ortiz JM, Jiménez-García J, Gutiérrez-Angulo M, Ayala-Madrigal ML, González-Mercado A, González-Villaseñor CO, Flores-López BA, Alvizo-Rodríguez C, Hernández-Sandoval JA, Fernández-Galindo MA, Maciel-Gutiérrez V, Ramírez-Plascencia H, and Ramírez-Ramírez R
- Subjects
- Age Factors, CpG Islands, Female, Humans, Male, Mexico, Middle Aged, Promoter Regions, Genetic, Sex Factors, Colorectal Neoplasms epidemiology, Colorectal Neoplasms genetics, DNA Methylation, MutL Protein Homolog 1 genetics
- Abstract
Introduction: Several genes determine the development of colorectal cancer (CRC), such as MLH1, which encodes a protein that participates in DNA repair. MLH1 hypermethylation has been associated with gene silencing., Objective: To analyze the methylation of five regions of MLH1 CpG island in colorectal tumors from Mexican patients., Materials and Methods: One hundred and one tumor tissue samples were obtained from Mexican patients with CRC who provided informed consent. DNA was subjected to bisulfite conversion. Methylation of all five regions of the CpG island was evaluated using methylation-specific PCR., Results: The frequency of methylation in Mexican patients with CRC was 25%. Regions A and B methylation was the main observed pattern (60%). Female patients showed a higher frequency of methylation (71%; OR 3.085; CI: 1.85-8.03; p = 0.02), and out of total methylated samples, 80% corresponded to individuals older than 45 years (p < 0.05)., Conclusion: We calculated a methylation frequency for the MLH1 gene of 25% in Mexican patients with CRC, with this being the first report for this population. Female patients and patients older than 45 years showed a higher frequency of methylation., (Copyright: © 2021 Permanyer.)
- Published
- 2021
- Full Text
- View/download PDF
39. Prevalence of the BRAF p.v600e variant in patients with colorectal cancer from Mexico and its estimated frequency in Latin American and Caribbean populations.
- Author
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Hernández-Sandoval JA, Gutiérrez-Angulo M, Magaña-Torres MT, Alvizo-Rodríguez CR, Ramírez-Plascencia HHF, Flores-López BA, Valenzuela-Pérez JA, Peregrina-Sandoval J, Moreno-Ortiz JM, Domínguez-Valentín M, and Ayala-Madrigal ML
- Subjects
- Base Sequence, Caribbean Region, Female, Humans, Latin America, Male, Mexico, Middle Aged, Prevalence, Colorectal Neoplasms genetics, Mutation genetics, Proto-Oncogene Proteins B-raf genetics
- Abstract
This study aimed to investigate the frequency of the somatic BRAF p.V600E in patients with colorectal cancer (CRC) in Mexico and compare it with those estimated for Latin American and Caribbean populations. One hundred and one patients with CRC with AJCC stages ranging I-IV from Western Mexico were included, out of which 55% were male and 61% had AJCC stage III-IV, with a mean age of 60 years. PCR-Sanger sequencing was used to identify the BRAF p.V600E variant. In addition, a systematic literature search in PubMed/Medline database and Google of the 42 countries in Latin America and the Caribbean led to the collection of information on the BRAF p.V600E variant frequency of 17 population reports. To compare the BRAF variant prevalence among populations, a statistical analysis was performed using GraphPad Prism V.6.0. We found that 4% of patients with CRC were heterozygous for the p.V600E variant. The χ
2 test showed no significant difference (p>0.05) in p.V600E detection when comparing with other Latin American and Caribbean CRC populations, except for Chilean patients (p=0.02). Our observational study provides the first evidence on the frequency of BRAF p.V600E in patients with CRC from Western Mexico, which is 4%, but increases to 7.8% for all of Latin America and the Caribbean. The patient mean age and genetic descent on the observed frequencies of the variant in populations could influence the frequency differences., Competing Interests: Competing interests: None declared., (© American Federation for Medical Research 2020. Re-use permitted under CC BY-NC. No commercial re-use. Published by BMJ.)- Published
- 2020
- Full Text
- View/download PDF
40. Association of LEP and ADIPOQ common variants with colorectal cancer in Mexican patients.
- Author
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Partida-Pérez M, de la Luz Ayala-Madrigal M, Peregrina-Sandoval J, Macías-Gómez N, Moreno-Ortiz J, Leal-Ugarte E, Cárdenas-Meza M, Centeno-Flores M, Maciel-Gutiérrez V, Cabrales E, Cervantes-Ortiz S, and Gutiérrez-Angulo M
- Subjects
- Adiponectin genetics, Carcinoma epidemiology, Colorectal Neoplasms epidemiology, Female, Gene Frequency, Genetic Variation, Genome-Wide Association Study, Humans, Male, Mexico epidemiology, Middle Aged, Polymorphism, Restriction Fragment Length physiology, Polymorphism, Single Nucleotide, Carcinoma genetics, Colorectal Neoplasms genetics, Leptin genetics
- Abstract
Leptin and adiponectin are cytokines produced by adipose tissue with opposite effects on tumor growth: the former stimulate whereas the latter inhibit it. The objective was to analyze the association of LEP A19G and ADIPOQ+45 T/G and +276 G/T polymorphisms in Mexican patients with colorectal cancer (CRC). 68 unrelated patients with CRC (study group) and 102 blood donors (control group); all subjects were Mestizos from western Mexico. The polymorphisms were established by PCR-RFLP on DNA samples obtained from peripheral blood. The LEP A19G polymorphism showed significant differences between CRC patients and control group (p= 0.01 for G/A genotype and p= 0.02 for the recessive model G/G +G/A); yet, in the analysis stratified by gender, this difference remained significant only in males. The ADIPOQ polymorphisms did not shown any significant differences. Our results suggest that the A19G LEP polymorphism is associated with CRC in Mexican patients.
- Published
- 2010
- Full Text
- View/download PDF
41. Prevalence of the BCR/ABL1 transcripts in Mexican patients with chronic myelogenous leukemia.
- Author
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Meza-Espinoza JP, Gutiérrez-Angulo M, Vázquez-Cárdenas A, Delgado-Lamas JL, Esparza-Flores MA, and González-García JR
- Subjects
- Adolescent, Adult, Aged, Child, Child, Preschool, Female, Fusion Proteins, bcr-abl analysis, Humans, Infant, Male, Middle Aged, Transcription, Genetic, Fusion Proteins, bcr-abl genetics, Leukemia, Myelogenous, Chronic, BCR-ABL Positive genetics
- Abstract
RT-PCR studies in 93 patients with chronic myelogenous leukemia from the Mexican West were done in order to know the proportion of b2a2 and b3a2 BCR/ABL1 transcripts. Forty-five patients showed the b3a2 transcript (48%), 37 (40%) displayed the b2a2 and in 11 cases (12%) both transcripts were detected. Statistical analyses showed that these figures are in accordance with two of three similar studies realized in Mexican population. Moreover, significant differences were found among Mexican people and patients from other countries, namely Ecuador, England, Italy, Poland, Japan, and Thailand. Ecuadorian patients showed differences with all the populations analyzed. These variations could be due to a different genetic background.
- Published
- 2007
42. A t(1;9)(q23.3 approximately q25;q34) affecting the ABL1 gene in a biphenotypic leukemia.
- Author
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González García JR, Bohlander SK, Gutiérrez Angulo M, Esparza Flores MA, Picos Cárdenas VJ, Meza Espinoza JP, Ayala Madrigal Mde L, and Rivera H
- Subjects
- Adolescent, Antineoplastic Combined Chemotherapy Protocols therapeutic use, Chromosome Breakage, Gene Rearrangement, Humans, In Situ Hybridization, Fluorescence, Leukemia drug therapy, Leukemia pathology, Male, Phenotype, Sensitivity and Specificity, Chromosomes, Human, Pair 1 genetics, Chromosomes, Human, Pair 9 genetics, Leukemia genetics, Proto-Oncogene Proteins c-abl genetics, Translocation, Genetic
- Abstract
Recurring chromosome translocations, which are found in leukemia, can result in the inappropriate expression of oncogenes or in the formation of chimeric genes that code for structurally and functionally abnormal proteins. The chromosomal t(1;9)(q23.3 approximately q25;q34) was found in a patient with biphenotypic leukemia. Fluorescence in situ hybridization (FISH) analysis revealed that the break on chromosome 9 occurred in the ABL1 gene. The breakpoint on chromosome 1 occurred distal to the PBX1 gene at 1q23.3, as shown by FISH using BAC RP11-503N16 and RP11-403P14, which flank the PBX1 locus; hence, the ABL1 gene can be fused with another gene distal to PBX1 gene.
- Published
- 2004
- Full Text
- View/download PDF
43. A 45,X sterile male with Yp disguised as 21p.
- Author
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Dávalos IP, Rivera H, Vásquez AI, Gutiérrez-Angulo M, Hernández-Vázquez MC, Cortina-Luna FA, Wong-Ley LE, and Domínguez-Quezada MG
- Subjects
- Adult, Centromere, Humans, In Situ Hybridization, Fluorescence, Infertility, Male genetics, Karyotyping, Male, Phenotype, Chromosomes, Human, Pair 21 genetics, Chromosomes, Human, X genetics, Chromosomes, Human, Y genetics, Oligospermia genetics, Sex Chromosome Aberrations, Translocation, Genetic
- Abstract
An azoospermic male was found to have, by means of banding techniques, a 45,X karyotype including a monocentric chromosome 21 with an euchromatic short arm that looked similar to Yp. This rearranged chromosome was further characterized by FISH with a whole Y chromosome paint and the alphoid repeats DYZ3 and D13Z1/D21Z1; the former probe gave a positive signal onto such a peculiar arm without spreading into the long arm, whereas the alphoid repeats revealed an apparent compound centromere with Y- and 21-sequences. Therefore, an unbalanced Y;21 whole arm translocation was concluded and the karyotype written as 45,X.ish der(Y;21)(p10;q10)(wcpY+,DYZ3+,D13Z1/D21Z1+). This patient represents the first case of a Y;21 translocation in an apparent 45,X male, constitutes the fifth instance of a 45,X sterile male, and conforms to previously established karyotype-phenotype correlations., (Copyright 2002 Wiley-Liss, Inc.)
- Published
- 2002
- Full Text
- View/download PDF
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