A5066749555- Genetic factors in colorectal cancer
- Colorectal Cancer Treatments and Studies
- Cancer Genomics and Diagnostics
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- Occupational and environmental lung diseases
- Cancer Research and Treatments
- Lung Cancer Treatments and Mutations
- Colorectal Cancer Screening and Detection
- Ferroptosis and cancer prognosis
- Genetic Associations and Epidemiology
- Bioinformatics and Genomic Networks
- Cancer-related molecular mechanisms research
- Helicobacter pylori-related gastroenterology studies
- Colorectal and Anal Carcinomas
- Advanced Breast Cancer Therapies
- Neuroendocrine Tumor Research Advances
- Genomic variations and chromosomal abnormalities
- HER2/EGFR in Cancer Research
- Biotin and Related Studies
- Medical Imaging and Pathology Studies
- Cancer Treatment and Pharmacology
- Cardiovascular Function and Risk Factors
- Global Cancer Incidence and Screening
- Heart Failure Treatment and Management
Institut d'Investigació Biomédica de Bellvitge
2012-2024
Institut Català d'Oncologia
2014-2024
Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública
2012-2024
Instituto de Salud Carlos III
2024
Instituto Cajal
2023
Bellvitge University Hospital
2023
Institut Català d'Ornitologia
2023
Centre for Biomedical Network Research on Rare Diseases
2020-2022
Comunidad de Madrid
2021
Centro de Investigación Biomédica en Red
2020
Somatic copy number aberrations (CNAs) are common acquired changes in cancer cells having an important role the progression of colon (colorectal cancer, CRC). This study aimed to perform a characterisation CNA and their impact gene expression.Copy were inferred from SNP array data series 99 CRC. Copy aberration events calculated used assess association between dosage, clinical molecular characteristics tumours, expression changes. All analyses adjusted for quantity stroma each sample, which...
A colorectal tumor is not an isolated entity growing in a restricted location of the body. The patient's gut environment constitutes framework where evolves and this relationship promotes includes complex tight correlation with inflammation, blood vessels formation, nutrition, microbiome composition. influence could both promote anti-tumor or pro-tumor response. set 98 paired adjacent mucosa tissues from cancer (CRC) patients 50 colon healthy donors (246 samples total) were included work....
Background Accurate detection of characteristic proteins secreted by colon cancer tumor cells in biological fluids could serve as a biomarker for the disease. The aim present study was to identify and validate new serum biomarkers demonstrate their potential usefulness early diagnosis cancer. Methods organized three sequential phases: 1) discovery, 2) technical validation, 3) proof concept test clinical use selected biomarkers. A prioritized subset differentially-expressed genes between...
Colorectal cancer studies typically include both colon and rectum tumors as a common entity, though this assumption is controversial only minor differences have been reported at the molecular epidemiologic level. We conducted study based on gene expression data of from to assess degree similarity between these sites transcriptomic level.A pooled analysis 460 100 four sets belonging three independent was conducted. Microsatellite instable were excluded are known different profile preferential...
In this study, we aim to identify the genes responsible for colorectal cancer risk behind loci identified in genome-wide association studies (GWAS). These may be candidate targets developing new strategies prevention or therapy. We analyzed of genotypes 26 GWAS single nucleotide polymorphisms (SNPs) with expression within a 2 Mb region (cis-eQTLs). Affymetrix Human Genome U219 arrays were used assess gene two series samples, one healthy colonic mucosa (n = 47) and other normal adjacent colon...
Abstract Purpose: Somatic mutations occur at early stages of adenoma and accumulate throughout colorectal cancer progression. The aim this study was to characterize the mutational landscape stage II tumors search for novel recurrent likely implicated in tumorigenesis. Experimental Design: exomic DNA 42 II, microsatellite-stable colon their paired mucosae were sequenced. Other molecular data available discovery dataset [gene expression, methylation, copy number variations (CNV)] used further...
Background Colorectal cancer (CRC) is a leading cause of death worldwide. Epidemiological risk factors for CRC included alcohol intake, which mainly metabolized to acetaldehyde by dehydrogenase and further oxidized acetate aldehyde dehydrogenase; consequently, the role genes in metabolism pathways particular interest. The aim this study analyze association between SNPs ADH1B ALDH2 risk, also main effect consumption on population. Methodology/Principal Findings from genes, pathway, were...
Dysregulation of transcriptional programs leads to cell malfunctioning and can have an impact in cancer development. Our study aims characterize global differences between regulatory normal tumor cells the colon. Affymetrix Human Genome U219 expression arrays were used assess gene 100 samples colon their paired adjacent mucosa. Transcriptional networks reconstructed using ARACNe algorithm 1,000 bootstrap replicates consolidated into a consensus network. Networks compared regarding topology...
Aim: Gain insight about the role of DNA methylation in malignant growth colon cancer. Patients & methods: Methylation and gene expression from 90 adjacent-tumor paired tissues 48 healthy were analyzed. Tumor genes whose change was explained by changes identified using linear models adjusted for tumor stromal content. Results: No differences found between adjacent tissues, but clear samples. We hypermethylated CpG islands located promoter regions that drive differential transcription factors...
Malignant pleural mesothelioma (MPM) is a rare and aggressive neoplasia affecting the lung mesothelium. Immune checkpoint inhibitors (ICI) in MPM have not been extremely successful, likely due to poor identification of suitable candidate patients for therapy. We aimed identify cellular immune fractions associated with clinical outcome classify based on their contexture. For each defined group, we sought molecular specificities that could help further define our classification at genomic...
Abstract Colonomics is a multi-omics dataset that includes 250 samples: 50 samples from healthy colon mucosa donors and 100 paired cancer patients (tumor/adjacent). From these samples, project data genotyping, DNA methylation, gene expression, whole exome sequencing micro-RNAs (miRNAs) expression. It also copy number variation (CNV) tumoral samples. In addition, clinical all available. The aims of the were to explore integrate datasets describe at molecular level compare normal tissues....
Genome-wide association studies on colorectal cancer have identified more than 60 susceptibility loci, but for most of them there is no clear knowledge functionality or the underlying gene responsible risk modification. Expression quantitative trail loci (eQTL) may provide functional information such single nucleotide polymorphisms (SNPs). We performed detailed eQTL analysis specific colon tissue a series 97 tumours, their paired adjacent normal mucosa and 47 samples donated by healthy...
Abstract Recent studies have suggested that APC loss alone may be insufficient to promote aberrant Wnt/β‐catenin signalling. Our aim was comprehensively characterize Wnt signalling components in a set of APC‐associated familial adenomatous polyposis (FAP) tumours. Sixty adenomas from six FAP patients with known pathogenic mutations were included. Somatic and KRAS mutations, β‐catenin immunostaining, qRT‐PCR APC, MYC, AXIN2 SFRP1 analysed. Array‐comparative genomic hybridization (aCGH) also...
•The TSO500 panel was useful to identify actionable driver alterations in patients with NSCLC.•Hybrid capture sequencing using had a very low failure rate clinical samples.•A high concordance observed between single-gene testing and NGS.•Large NGS panels provide additional genomic information which could have impact on therapeutic or prevention strategies. BackgroundTargeted next-generation (NGS) is recommended screen (GAs) non-small-cell lung cancer (NSCLC). We determined the feasibility...
Abstract Background DNA methylation is involved in the regulation of gene expression and phenotypic variation, but inter-relationship between genetic remains poorly understood. Here we combine analysis variants related to markers (methylation quantitative trait loci: mQTLs) (expression eQTLs) with methylation: eQTMs), provide novel insights into genetic/epigenetic architecture colocalizing molecular markers. Results Normal mucosa from 100 patients colon cancer 50 healthy donors included...
We aimed to identify and validate a set of miRNAs that could serve as prognostic signature useful determine the recurrence risk for patients with COAD. Small RNAs from tumors 100 stage II, untreated, MSS colon cancer were sequenced discovery step. For this purpose, we built an miRNA score using elastic net Cox regression model based on disease-free survival status. Patients grouped into high or low categories median value score. then validated these results in independent sample II...
Relative survival has been used as a measure of the temporal evolution excess risk death cohort patients diagnosed with cancer, taking into account mortality reference population. Once estimated, three probabilities can be computed at time T: 1) crude probability associated cause initial diagnosis (disease under study), 2) other causes, and 3) absolute in T. This paper presents WebSurvCa application (https://shiny.snpstats.net/WebSurvCa/), whereby hospital-based population-based cancer...
Neoadjuvant endocrine therapy (NET) for hormone receptor-positive (HR+) breast cancer might be as effective chemotherapy, with a better toxicity profile. Blocking crucial process such angiogenesis sunitinib may have synergistic effect NET. We aimed to assess the efficacy and safety of neoadjuvant plus exemestane in early-stage HR+/HER2-negative cancer. In this phase I/II study, postmenopausal women HR+/HER2- stage II-III received at conventional dose 25mg 3 + design (3/1weeks scheme) or...