Jordi Barretina
A5049257586- Cancer Genomics and Diagnostics
- Lung Cancer Treatments and Mutations
- Esophageal Cancer Research and Treatment
- Gastric Cancer Management and Outcomes
- HIV Research and Treatment
- Genetic factors in colorectal cancer
- Sarcoma Diagnosis and Treatment
- Immune Cell Function and Interaction
- Gastrointestinal Tumor Research and Treatment
- Cancer-related gene regulation
- Bioinformatics and Genomic Networks
- Computational Drug Discovery Methods
- Protein Degradation and Inhibitors
- Melanoma and MAPK Pathways
- Epigenetics and DNA Methylation
- Genomics and Chromatin Dynamics
- Neurofibromatosis and Schwannoma Cases
- Cancer, Hypoxia, and Metabolism
- Lung Cancer Research Studies
- Functional Brain Connectivity Studies
- Helicobacter pylori-related gastroenterology studies
- RNA modifications and cancer
- Wnt/β-catenin signaling in development and cancer
- Cancer-related Molecular Pathways
- Advanced Surface Polishing Techniques
Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
2021-2025
Institut d'Investigació Biomèdica de Girona
2019-2022
Institut Català d'Oncologia
2021
Centro de Investigación Biomédica en Red
2020
University of Girona
2020
Novartis (United States)
2013-2019
Broad Institute
2007-2018
University of Chicago
2016-2017
University of Ibadan
2016-2017
Lagos State University Teaching Hospital
2016-2017
Comprehensive knowledge of the genomic alterations that underlie cancer is a critical foundation for diagnostics, prognostics, and targeted therapeutics. Systematic efforts to analyze genomes are underway, but analysis hampered by lack statistical framework distinguish meaningful events from random background aberrations. Here we describe systematic method, called Genomic Identification Significant Targets in Cancer (GISTIC), designed analyzing chromosomal aberrations cancer. We use it study...
Whole-genome sequencing of 25 metastatic melanomas and matched germline DNA in humans reveals that the highest mutation load is associated with chronic sun exposure, PREX2 gene mutated approximately 14 per cent cases Melanoma a highly cancer, characterized by high lethality rapid development resistance to treatment. rate varies widely, exposure sunlight. — PTEN-interacting protein previously implicated breast cancer 14% cases. Although precise role melanoma remains be elucidated, ectopic...
Abstract Hepatocellular carcinomas represent the third leading cause of cancer-related deaths worldwide. The vast majority cases arise in context chronic liver injury due to hepatitis B virus or C infection. To identify genetic mechanisms hepatocarcinogenesis, we characterized copy number alterations and gene expression profiles from same set tumors associated with virus. Most harbored 1q gain, 8q 8p loss, occasional 13 additional chromosome arms. In addition amplifications at 11q13 6 103...
A comprehensive understanding of the molecular vulnerabilities every type cancer will provide a powerful roadmap to guide therapeutic approaches. Efforts such as The Cancer Genome Atlas Project identify genes with aberrant copy number, sequence, or expression in various types, providing survey that may have causal role cancer. complementary approach is perform systematic loss-of-function studies essential particular cell types. We begun effort, termed Achilles, aimed at identifying genetic...
Global studies of transcript structure and abundance in cancer cells enable the systematic discovery aberrations that contribute to carcinogenesis, including gene fusions, alternative splice isoforms, somatic mutations. We developed a approach characterize spectrum cancer-associated mRNA alterations through integration transcriptomic structural genomic data, we applied this generate new insights into melanoma biology. Using paired-end massively parallel sequencing cDNA (RNA-seq) together...
Hepatocellular carcinoma (HCC) is a heterogeneous cancer with active Wnt signaling. Underlying biologic mechanisms remain unclear and no drug targeting this pathway has been approved to date. We aimed characterize Wnt-pathway aberrations in HCC patients, investigate sorafenib as potential modulator experimental models of liver cancer.The was assessed using mRNA (642 HCCs 21 cell lines) miRNA expression data (89 HCCs), immunohistochemistry (108 CTNNB1-mutation (91 HCCs). Effects on signaling...
Abstract A more detailed understanding of the somatic genetic events that drive gastrointestinal adenocarcinomas is necessary to improve diagnosis and therapy. Using data from high-density genomic profiling arrays, we conducted an analysis copy-number aberrations in 486 including 296 esophageal gastric cancers. Focal amplifications were substantially prevalent gastric/esophageal than colorectal tumors. We identified 64 regions significant recurrent amplification deletion, some shared others...
Somatic genetic alterations in cancers have been linked with response to targeted therapeutics by creation of specific dependency on activated oncogenic signaling pathways. However, no tools currently exist systematically connect such lesions therapeutic vulnerability. We therefore developed a genomics approach identify associated therapeutically relevant oncogene dependency. Using integrated genomic profiling, we demonstrated that the genomes large panel human non-small cell lung cancer...
Abstract Blocking oncogenic signaling induced by the BRAF V600E mutation is a promising approach for melanoma treatment. We tested anti-tumor effects of specific inhibitor Raf protein kinases, PLX4032/RG7204, in cell lines. PLX4032 decreased through MAPK pathway only lines with mutation. Seven out 10 mutant displayed sensitivity based on viability assays and three were resistant at concentrations up to μM. Among sensitive lines, four highly IC 50 values below 1 μM, moderately between There...