- Bladder and Urothelial Cancer Treatments
- Biomedical Research and Pathophysiology
- Cancer Immunotherapy and Biomarkers
- Renal Transplantation Outcomes and Treatments
- Estrogen and related hormone effects
- Neonatal Health and Biochemistry
- T-cell and B-cell Immunology
- Urinary and Genital Oncology Studies
- Amino Acid Enzymes and Metabolism
- Breast Cancer Treatment Studies
- Immune Cell Function and Interaction
- Advanced Breast Cancer Therapies
- HER2/EGFR in Cancer Research
- Epigenetics and DNA Methylation
- Genetic Associations and Epidemiology
- Cytomegalovirus and herpesvirus research
- RNA modifications and cancer
- Organ Transplantation Techniques and Outcomes
- Single-cell and spatial transcriptomics
- Immunotherapy and Immune Responses
- Pancreatic and Hepatic Oncology Research
- Computational Drug Discovery Methods
- Neonatal Respiratory Health Research
- Cancer-related Molecular Pathways
- Methemoglobinemia and Tumor Lysis Syndrome
University of California, San Francisco
2017-2025
Universidad Complutense de Madrid
2021-2025
IRCCS Humanitas Research Hospital
2025
Spanish National Cancer Research Centre
2014-2023
Centro de Investigación Biomédica en Red de Cáncer
2019-2023
University of San Francisco
2021
Centro Nacional de Epidemiología
2007-2019
University of Liège
2015-2017
Center for Research in Environmental Epidemiology
2015
Universitat Pompeu Fabra
2015
Purpose We recently reported that the mRNA-based, 21-gene Genomic Health recurrence score (GHI-RS) provided additional prognostic information regarding distant beyond obtained from classical clinicopathologic factors (age, nodal status, tumor size, grade, endocrine treatment) in women with early breast cancer, confirming earlier reports. The aim of this article is to determine how much contained standard immunohistochemical (IHC) markers. Patients and Methods primary cohort comprised 1,125...
Gene amplification of CCND1 is observed in a subgroup breast cancers with poor prognosis, whereas overexpression the protein cyclin D1 has been linked to both worse and better clinical outcome. have also associated resistance treatment tamoxifen or even potentially detrimental effect tamoxifen.To clarify these challenging partly contrasting predictive prognostic links for we analysed large cohort postmenopausal cancer patients randomised receive either adjuvant anastrozole tamoxifen, as part...
Omics data integration is becoming necessary to investigate the genomic mechanisms involved in complex diseases. During process, many challenges arise such as heterogeneity, smaller number of individuals comparison parameters, multicollinearity, and interpretation validation results due their complexity lack knowledge about biological processes. To overcome some these issues, innovative statistical approaches are being developed. In this work, we propose a permutation-based method...
Transplant rejection is the critical clinical end-point limiting indefinite survival after histocompatibility antigen (HLA) mismatched organ transplantation. The predominant cause of late graft loss antibody-mediated (AMR), a process whereby injury to caused by donor-specific antibodies, which bind HLA and non-HLA (nHLA) antigens. AMR incompletely diagnosed as donor/recipient (D/R) matching only limited locus nHLA immunogenic antigens remain be identified. We have developed an integrative...
Studying immune repertoire in the context of organ transplant provides important information on how adaptive immunity may contribute and modulate graft rejection. Here we characterize peripheral blood individuals before after kidney using B cell receptor sequencing a longitudinal clinical study. Individuals who develop rejection transplantation have more diverse transplant, suggesting predisposition for post-transplant risk. Additionally, over 2 years follow-up, patients demonstrate specific...
Platinum-based neoadjuvant chemotherapy (NAC) increases the survival of patients with organ-confined urothelial bladder cancer (UBC). In retrospective studies, basal/squamous (BASQ)-like tumors present more advanced disease and have worse prognosis. Transcriptomics-defined tumor subtypes are associated response to NAC.
Abstract Background. A number of studies have provided widely heterogeneous results for and against the hypothesis that genetic variants in drug metabolizing enzymes can influence patient response to tamoxifen. Most these are confounded by relatively small numbers patients, lack comprehensive genotype information, detailed clinical outcome data, selection biases. The ATAC trial was a prospective randomized double-blind placebo-controlled designed compare adjuvant use anastrozole versus...
Tumor-infiltrating B cells can play an important role in anti-tumor responses but their presence is not well understood. In this study, we extracted the cell receptor repertoires from 9522 tumor and adjacent non-tumor samples across 28 types Cancer Genome Atlas project performed diversity network analysis. We identified differences statistics subtypes observed a trend towards increased clonality primary tumors compared to tissues. also found significant associations between repertoire...
Abstract Background Ulcerative Colitis (UC) is an heterogenous debilitating disease without a cure. The step-up therapy approach aims at controlling and alleviating intestinal inflammation by achieving maintaining clinical endoscopic remission. However, the rate of primary non-response or loss response to therapies still high. Predictive markers that accurately guide decisions about best therapeutic choice are unmet need. This study determine metabolic profiles UC patients explore...
Understanding the unique susceptibility of human kidney to pH dysfunction and injury in cystinosis is paramount developing new therapies preserve renal function. Renal proximal tubular epithelial cells (RPTECs) fibroblasts isolated from patients with were transcriptionally profiled. Lysosomal fractionation, immunoblotting, confocal microscopy, intracellular pH, TEM, mitochondrial stress test, membrane integrity assays performed for validation. CRISPR, CTNS -/- RPTECs generated. Alterations...
Understanding the unique susceptibility of human kidney to pH dysfunction and injury in cystinosis is paramount developing new therapies preserve renal function. Renal proximal tubular epithelial cells (RPTECs) fibroblasts isolated from patients with were transcriptionally profiled. Lysosomal fractionation, immunoblotting, confocal microscopy, intracellular pH, TEM, mitochondrial stress test performed for validation. CRISPR, CTNS -/- RPTECs generated. Alterations cell stress, autophagic...
Background Infiltrating B and T cells have been observed in several tumor tissues, including pancreatic ductal adenocarcinoma (PDAC). The majority known PDAC risk factors point to a chronic inflammatory process leading different forms of immunological infiltration. Understanding infiltration may lead improved knowledge this devastating disease. Methods We extracted the immunoglobulins (IGs) cell receptors (TCRs) from RNA-sequencing 144 TCGA 180 normal tissue GTEx. used Shannon entropy find...
SUMMARY An outbreak of Legionnaire's disease was detected in Pamplona, Spain, on 1 June 2006. Patients with pneumonia were tested to detect Legionella pneumophila antigen urine (Binax Now; Binax Inc., Scarborough, ME, USA), and all 146 confirmed cases interviewed. The related district 2 (22 012 inhabitants), where 45% the lived 50% had visited; 5% neighbouring districts. highest incidence found resident population (3/1000 section (14/1000). All 31 cooling towers analysed. L. Now) four...
Peripheral blood (PB) molecular patterns characterizing the different effector immune pathways driving distinct kidney rejection types remain to be fully elucidated. We hypothesized that transcriptome analysis using RNA sequencing (RNAseq) in samples of transplant patients would enable identification unique protein-coding and noncoding genes may able segregate phenotypes.We evaluated 37 biopsy-paired PB from discovery cohort, with stable (STA), antibody-mediated (AMR), T cell-mediated (TCMR)...
Introduction Muscle-invasive bladder cancer (MIBC) is a heterogeneous disease with several taxonomic molecular subtypes showing different genetic, clinical, and epidemiological profiles. It has been suggested that MIBC-subtypes follow tumorigenesis pathways playing decisive roles at stages of tumor development, resulting in distinct microenvironment containing both innate adaptive immune cells (T B lymphocytes). We aim to characterize the MIBC by analyzing tumor-infiltrating T cell...
Objectives: Different types of ‘-omics' data are becoming available in the post-genome era; still a single -omics assessment provides limited insights to understand biological mechanism complex diseases. Genomics, epigenomics and transcriptomics provide insight into molecular dysregulation neoplastic diseases, among them urothelial bladder cancer (UBC). Here, we propose detailed analytical framework necessary achieve an adequate integration three sets ultimately identify previously hidden...
Primary and secondary prevention can highly benefit a personalized medicine approach through the accurate discrimination of individuals at high risk developing specific disease from those moderate low risk. To this end precise prediction models need to be built. This endeavor requires characterization individual exposome, genome, phenome. Massive molecular omics data representing different layers biological processes host nonhost will enable build more models. Epidemiologists aim integrate...
Breast cancer is one of the most common malignancies in women. Genome-wide association studies have identified FGFR2 as a breast susceptibility gene. Common variation other fibroblast growth factor (FGF) receptors might also modify risk. We tested this hypothesis by studying genotyped single-nucleotide polymorphisms (SNPs) and imputed SNPs FGFR1, FGFR3, FGFR4 FGFRL1 Cancer Association Consortium. Data were combined from 49 studies, including 53 835 cases 50 156 controls, which 89 050 (46 450...
Introduction Germline variants in TP63 have been consistently associated with several tumors, including bladder cancer, indicating the importance of TP53 pathway cancer genetic susceptibility. However, other related genes, rs1042522 (Arg72Pro), still present controversial results. We carried out an depth assessment associations between common germline and risk. Material Methods investigated 184 tagSNPs from 18 genes 1,058 cases 1,138 controls Spanish Bladder Cancer/EPICURO Study. Cases were...