A5009661827- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Colorectal Cancer Treatments and Studies
- Colorectal Cancer Screening and Detection
- Epigenetics and DNA Methylation
- DNA Repair Mechanisms
- Helicobacter pylori-related gastroenterology studies
- Wnt/β-catenin signaling in development and cancer
- Genetic Associations and Epidemiology
- BRCA gene mutations in cancer
- Lung Cancer Treatments and Mutations
- Gastric Cancer Management and Outcomes
- Peptidase Inhibition and Analysis
- Anesthesia and Sedative Agents
- Nutrition, Genetics, and Disease
- Ubiquitin and proteasome pathways
- Intensive Care Unit Cognitive Disorders
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Genomics and Rare Diseases
- Circular RNAs in diseases
- Cancer-related gene regulation
- PARP inhibition in cancer therapy
- Telomeres, Telomerase, and Senescence
- Sustainable Development and Environmental Policy
- Health, Environment, Cognitive Aging
Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas
2014-2025
Universitat de Barcelona
2014-2025
Consorci Institut D'Investigacions Biomediques August Pi I Sunyer
2014-2025
Fundació Clínic per a la Recerca Biomèdica
2024
Centro de Investigación Biomédica en Red
2024
Hospital Clínic de Barcelona
1995-2017
University of Auckland
2015
University of California, San Francisco
2015
Universitat Politècnica de Catalunya
2015
Universidad de San Buenaventura, Bogota
2015
Early-onset colorectal cancer (CRC) is suggestive of a hereditary predisposition. Lynch syndrome the most frequent CRC cause. The MUTYH gene has also been related to CRC. A systematic characterization these two diseases not reported previously in this population.We studied retrospectively collected series 140 patients ≤50 years old diagnosed with nonpolyposis Demographic, clinical, and familial features were obtained. Mismatch repair (MMR) deficiency was determined by microsatellite...
Colorectal cancer is an important cause of mortality in the developed world. Hereditary forms are due to germ-line mutations APC, MUTYH, and mismatch repair genes, but many cases present familial aggregation unknown inherited cause. The hypothesis rare high-penetrance new genes a likely explanation for underlying predisposition some these cases.Exome sequencing was performed 43 patients with colorectal from 29 families strong disease without known hereditary genes. Data analysis selected...
Colorectal cancers (CRCs) that have microsatellite instability (MSI) and mutL homolog 1 (MLH1) immunoloss are observed in 3 clinical scenarios: Lynch syndrome (LS), sporadic MSI CRC, Lynch-like (LLS). v-Raf murine sarcoma viral oncogene B1 (BRAF) mutational analysis is used to differentiate LS from CRC. The role of MLH1 promoter methylation status for the differential diagnosis these forms not well established. objectives this study were: 1) analyze MLH1-deficient CRCs by pyrosequencing, 2)...
Colorectal cancer (CRC) is one of the most common neoplasms in world. Fanconi anemia (FA) a very rare genetic disease causing bone marrow failure, congenital growth abnormalities and predisposition. The comprehensive FA DNA damage repair pathway requires collaboration 53 proteins it necessary to restore genome integrity by efficiently repairing damaged DNA. A link between genes breast ovarian germline predisposition has been previously suggested. We selected 74 CRC patients from 40 unrelated...
Background Colorectal cancer (CRC) multiplicity has been mainly related to polyposis and non-polyposis hereditary syndromes. In sporadic CRC, aberrant gene promoter methylation shown play a key role in carcinogenesis, although little is known about its involvement multiplicity. To assess the effect of tumor hypermethylation suppressor genes was evaluated patients with both multiple solitary tumors, as proof-of-concept an underlying epigenetic defect. Methodology/Principal Findings We...
// Clara Esteban-Jurado 1 , David Giménez-Zaragoza 2 Jenifer Muñoz Sebastià Franch-Expósito Miriam Álvarez-Barona 3 Teresa Ocaña Cuatrecasas 4 Sabela Carballal María López-Cerón Maria Marti-Solano 5 Marcos Díaz-Gay Tom van Wezel 6 Antoni Castells Luis Bujanda 7 Judith Balmaña 8 Victoria Gonzalo 9 Gemma Llort 10 Ruiz-Ponte Joaquín Cubiella 11 Francesc Balaguer Rosa Aligué Sergi Castellví-Bel Gastroenterology Department, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer...
Abstract Background Familial adenomatous polyposis (FAP) is an autosomal dominant-inherited colorectal cancer syndrome, caused by germline mutations in the APC gene. Recently, biallelic MUTYH have also been identified patients with multiple adenomas and -negative FAP. The aim of this work therefore to determine frequency among FAP families from two Spanish populations. Methods Eighty-two unrelated classical or attenuated were screened for mutations. analysis was then conducted those 9...
Abstract Background Colorectal cancer (CRC) is the second leading cause of death in developed countries. Familial aggregation CRC also important outside syndromic forms and, this case, a polygenic model with several common low-penetrance alleles contributing to genetic predisposition could be hypothesized. Mucins and GALNTs (N-acetylgalactosaminyltransferase) are interesting candidates for susceptibility have not been previously evaluated. We present results ten variants linked risk previous...
Colorectal cancer (CRC) is the second most common in Western countries. Hereditary forms only correspond to 5% of CRC burden. Recently, genome-wide association studies have identified low-penetrant genetic susceptibility loci. Early-onset (CRC<50 years old) especially suggestive hereditary predisposition although 85–90% heritability still remains unidentified. CRC<50 patients ( n = 191) were compared with a late-onset group (CRC>65 1264). variants at 8q23.3 (rs16892766), 8q24.21 (rs6983267),...
Colorectal cancer (CRC) is one of the most common cancers worldwide. Lynch Syndrome (LS) form hereditary CRC and it caused by germline defects in DNA-mismatch repair (MMR) pathway. It extreme importance for affected LS patients their relatives to identify causative alteration provide intensified surveillance those at risk allow early diagnosis prevention. Current approaches molecular typically involve screening MMR genes targeted gene-panel sequencing rearrangement screening. We report...
Lynch syndrome is the most common cause of hereditary colorectal cancer (CRC), and it characterized by DNA mismatch repair (MMR) deficiency. The term Lynch-like (LLS) used for patients with MMR-deficient tumors neither germline mutation in MLH1, MSH2, MSH6, PMS2, or EPCAM nor MLH1 somatic methylation. Biallelic inactivation cryptic MMR variants undetected during genetic testing have been proposed to be involved. Sixteen early-onset LLS CRC were selected tumor whole-exome sequencing. Two...
A significant proportion of colorectal cancer (CRC) cases have familial aggregation but little is known about the genetic factors that contribute to these cases. We performed an exhaustive functional characterization variants associated with CRC.We whole-exome sequencing analyses 75 patients from 40 families a history CRC (including early-onset cases) unknown germline basis (discovery cohort). also sequenced specific genes in DNA external replication cohort 473 families, including 488 tumors...
The serrated polyposis syndrome (SPS) is the most common and yet underdiagnosed colorectal syndrome. It characterized by multiple and/or large colonic polyps a higher associated risk for cancer (CRC). main objective of this study was to identify new candidate genes involved in germline predisposition SPS/CRC. Thirty-nine SPS patients from 16 families (≥2 per family) were recruited without alterations well-known hereditary CRC genes, somatic whole-exome sequencing performed. Germline rare...
Abstract Background: The presence of the A118G single nucleotide polymorphism in OPRM1 gene as well noxious stimulation might affect requirements remifentanil for patients undergoing ultrasonographic endoscopy under sedation-analgesia with propofol and remifentanil. Bispectral index (BIS) was used a surrogate measure effect. Methods: A total 207 were screened randomly received different combinations remifentanil, changed depending on nausea response to tube introduction. Nonlinear mixed...
Respiratory depression is a common adverse effect of propofol and remifentanil. We aimed to develop model for respiratory depressant effects with remifentanil in patients undergoing endoscopy sedation. Data were available 136 Participants randomly received infusions Predicted plasma concentrations, outputted by infusion pumps, available. Transcutaneous arterial pressure carbon dioxide (pCO<sub>2</sub>) was measured. analyzed using nonlinear mixed-effects modeling methods. Covariate...
Colorectal cancer (CRC) is the second cause of cancer-related death in Western world. Much CRC genetic risk remains unidentified and may be attributable to a large number common, low-penetrance variants. Genetic linkage studies families have reported additional association with regions 9q22-31, 3q21-24, 7q31, 11q, 14q 22q. There are several plausible candidate genes for susceptibility within aforementioned including PTCH1, XPA TGFBR1 EPHB1 MRAS 3q21-q24.
Colorectal cancer (CRC) shows aggregation in some families but no alterations the known hereditary CRC genes. We aimed to identify new candidate genes which are potentially involved germline predisposition familial CRC. An integrated analysis of and tumor whole-exome sequencing data was performed 18 unrelated families. Deleterious single nucleotide variants (SNV), short insertions deletions (indels), copy number (CNVs) loss heterozygosity (LOH) were assessed as candidates for first or second...
Abstract Background CDH1 and CTNNA1 remain as the main genes for hereditary gastric cancer. However, they only explain a small fraction of cancer cases with suspected inherited basis. In this study, we aimed to identify new early-onset patients (EOGC; < 50 years old). Methods After germline exome sequencing in 20 EOGC replication relevant findings by gene-panel an independent cohort 152 patients, CTNND1 stood out interesting candidate gene, since its protein product (p120ctn) directly...
Colorectal cancer (CRC) is the second leading cause of cancer-related death among men and women in Western countries. Once a tumour develops, differentiated prognosis could be determined by lifestyle habits or inherited somatic genetic factors. Finding such prognostic factors will helpful order to identify cases with shorter survival at higher risk recurrence that may benefit from more intensive treatment follow-up surveillance. Sixteen CRC susceptibility variants were directly genotyped...
The genetic cause for several families with gastric cancer (GC) aggregation is unclear, marked relevance in early-onset patients. We aimed to identify new candidate genes involved GC germline predisposition. Whole-exome sequencing (WES) of samples was performed 20 patients without previous mutation identified. WES also nine tumor analyze the somatic profile using SigProfilerExtractor tool. Sequencing data were filtered select those variants plausible pathogenicity, rare frequency and...
Abstract Background: Colorectal cancer has high incidence and associated mortality worldwide. Screening programs are recommended for men women over 50. Intermediate screens such as fecal immunochemical testing (FIT) select patients colonoscopy with suboptimal sensitivity. Additional biomarkers could improve the current scenario. Methods: We included 2,893 individuals a positive FIT test. They were classified cases when high-risk lesion colorectal was detected after colonoscopy, whereas...