Ángel Alonso
A5102745340- Genetic factors in colorectal cancer
- Semantic Web and Ontologies
- Cancer Genomics and Diagnostics
- Colorectal Cancer Treatments and Studies
- Genomic variations and chromosomal abnormalities
- Multiple and Secondary Primary Cancers
- Spanish Linguistics and Language Studies
- Colorectal Cancer Screening and Detection
- Experimental Learning in Engineering
- Comparative Literary Analysis and Criticism
- Journalism and Media Studies
- DNA Repair Mechanisms
- Genomics and Rare Diseases
- Comparative International Legal Studies
- Congenital Ear and Nasal Anomalies
- Renal Transplantation Outcomes and Treatments
- Lung Cancer Treatments and Mutations
- Cultural and Mythological Studies
- Archaeology and Cultural Heritage
- Legal processes and jurisprudence
- Educational theories and practices
- linguistics and terminology studies
- Data Privacy and Cybersecurity
- Lung Cancer Research Studies
- Lung Cancer Diagnosis and Treatment
Hospital Universitario Virgen del Rocío
2025
Navarrabiomed
2019-2024
Universidad Publica de Navarra
2019-2024
Complejo Hospitalario de Navarra
2013-2023
Hospital Virgen del Camino
2000-2022
Sociedad Española de Periodoncia y Osteointegración
2021
Complexo Hospitalario Universitario A Coruña
2012-2020
Navarre Institute of Health Research
2019
Servicio Navarro de Salud
2016
Universidad de León
2002-2015
<h3>Background</h3> The UK introduced financial incentives for management of atrial fibrillation (AF) in 2006, after which there was an increase the proportion AF patients diagnosed as resolved. Removal Scotland provides a natural experiment to investigate effects withdrawal incentive on diagnosis resolved AF. <h3>Aim</h3> Investigate introduction and <h3>Design & setting</h3> Cohort study large database primary care records, before April 2006 Scotland, England Northern Ireland, their...
Familial adenomatous polyposis (FAP) is a well-described inherited syndrome, which responsible for <1% of all colorectal cancer (CRC) cases. The syndrome characterised by the development hundreds to thousands adenomas in colorectum. Almost patients will develop CRC if they are not identified and treated at an early stage. as autosomal dominant trait caused mutations APC gene. Recently, second gene has been that also gives rise colonic polyposis, although phenotype less severe than typical...
There are no internationally agreed upon clinical guidelines as to which women with gynecological cancer would benefit from Lynch syndrome screening or how best manage the risk of in syndrome. The Manchester International Consensus Group was convened April 2017 address this unmet need. aim develop clear and comprehensive guidance regarding management sequelae based on existing evidence expert opinion medical professionals patients.
Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays thanks the wide adoption of next-generation sequencing. However, many cases remain undiagnosed even after exome or genome analysis, because methods used missed cause in known gene, novel causative gene could not be identified and/or confirmed. To address these challenges, RD-Connect Genome-Phenome Analysis Platform (GPAP) facilitates collation, discovery, sharing, and analysis standardized genome-phenome...
The SARS-CoV-2 (Covid-19) coronavirus pandemic is evolving very quickly and means a special risk for both immunosuppressed comorbid patients. Knowledge about this growing infection also increasing although many uncertainties remain, especially in the kidney transplant population. This manuscript presents proposal action with general specific recommendations to protect prevent vulnerable population such as recipients.
The SARS-CoV-2 (Covid-19) coronavirus pandemic is evolving very quickly and means a special risk for both immunosuppressed comorbid patients. Knowledge about this growing infection also increasing although many uncertainties remain, especially in the kidney transplant population. This manuscript presents proposal action with general specific recommendations to protect prevent vulnerable population such as recipients. La pandemia por está evolucionando de manera muy rápida y representa un...
<h3>Background</h3> Women with a germline mutation in one of the MMR genes <i>MLH1</i>, <i>MSH2</i> or <i>MSH6</i> reportedly have 4–12% lifetime risk ovarian cancer, but there is limited knowledge on survival. Prophylactic bilateral salpingo-oophorectomy (PBSO) has been suggested for preventing this condition. <h3>Aim</h3> The purpose retrospective multicentre study was to describe survival carriers pathogenic mutations genes, and who had contracted cancer. <h3>Methods</h3> tested positive...
The knowledge of the genetic variability local population is utmost importance in personalized medicine and has been revealed as a critical factor for discovery new disease variants. Here, we present Collaborative Spanish Variability Server (CSVS), which currently contains more than 2000 genomes exomes unrelated individuals. This database generated collaborative crowdsourcing effort collecting sequencing data produced by genomic projects other purposes. Sequences have grouped ICD10 upper...
Abstract The survival rates for children with cancer have increased appreciably over the last few decades; however, childhood survivors continue to suffer from long-lasting sequelae. Studies demonstrated that presence of malnutrition, over- and under-nutrition, at diagnosis or duration malnutrition during treatment is associated toxicity, infection, inferior survival. Dietary habits, along behavioral socioeconomic status, are known factors lead obesity undernutrition can affect prognosis...
Heterozygous mutations in PMS2 are involved Lynch syndrome, whereas biallelic found Constitutional mismatch repair-deficiency syndrome patients. Mutation detection is complicated by the occurrence of sequence exchange events between duplicated regions and PMS2CL. We investigated frequency such with a nonspecific polymerase chain reaction (PCR) strategy, co-amplifying both PMS2CL sequences. This allowed us to score ratios gene pseudogene-specific nucleotides at 29 PSV sites from exon 11 end...
Although duodenal adenomas and cancer appear to occur significantly less frequently in autosomal recessive MUTYH-associated polyposis (MAP) than dominant familial adenomatous (FAP),1Walton S.J. et al.Clin Gastroenterol Hepatol. 2016; 14: 986-992Abstract Full Text PDF PubMed Google Scholar current guidelines recommend similar endoscopic surveillance for both disorders.2Syngal S. al.Am J Gastroenterol. 2015; 110: 223-226Crossref Scopus (1081) Scholar, 3van Leerdam M.E. al.Endoscopy. 2019; 51:...
Constitutional MLH1 epimutations are characterised by monoallelic methylation of the promoter throughout normal tissues, accompanied allele-specific silencing. The mechanism underlying primary is currently unknown. aim this study was to perform an in-depth characterisation constitutional targeting aberrantly methylated region around and other genomic loci. Twelve epimutation carriers, 61 Lynch syndrome patients, 41 healthy controls, were analysed Infinium 450 K array. Targeted molecular...
The variants c.306+5G>A and c.1865T>A (p.Leu622His) of the DNA repair gene MLH1 occur frequently in Spanish Lynch syndrome families. To understand their ancestral history clinical effect, we performed functional assays a penetrance analysis studied genetic geographic origins. Detailed family histories were taken from 29 carrier Functional included silico vitro at RNA protein levels. Penetrance was calculated using modified segregation adjusted for ascertainment. Founder effects evaluated by...
Microsatellite instability (MSI) testing of colorectal cancers (CRCs) is used to screen for Lynch syndrome (LS), a hereditary cancer-predisposition, and can be predict response immunotherapy. Here, we present single-molecule molecular inversion probe sequencing-based MSI assay demonstrate its clinical validity according existing guidelines. We amplified 24 microsatellites in multiplex trained classifier using 98 CRCs, which accommodates marker specific sensitivities MSI. Sample...
Spinal muscular atrophy (SMA) is a severe neuromuscular autosomal recessive disorder affecting 1/10,000 live births. Most SMA patients present homozygous deletion of SMN1, while the vast majority carriers only single SMN1 copy. The sequence similarity between and SMN2, complexity SMN locus makes estimation copy-number by next-generation sequencing (NGS) very difficult. Here, we SMAca, first python tool to detect estimate absolute using NGS data. Moreover, SMAca takes advantage knowledge...
Abstract Aim To identify loci associated with stages III/IV, grade C periodontitis (PIII/IV‐C) through a genome‐wide association study (GWAS). Materials and Methods 441 Caucasian Spanish PIII/IV‐C cases from the SEPA Network of Research Clinics 1141 controls Banco Nacional de ADN were genotyped “Axiom Spain Biobank Array,” which contains 757836 markers, including rare low‐frequency variants. The analysis individual subsequently gene‐level Sequence Kernel Association Test (SKAT) carried out...
Genetic testing for BRCA1/2 genes is widely used as a strategy to reduce incidence and morbidity of hereditary breast ovarian cancer (HBOC). The purpose this study analyse the demographic molecular characteristics BRCA germline mutations in Navarra, Spain, investigate clinical profile sporadic (BC) (OC) Community.The includes 1246 individuals assessed genetic during 2000-2016, cohort BC (n = 4384) OC 561) from population-based Navarra Cancer Registry. Distribution mutations, well as,...