David Tamborero
A5011591530- Cancer Genomics and Diagnostics
- Cardiac Arrhythmias and Treatments
- Cardiac pacing and defibrillation studies
- Atrial Fibrillation Management and Outcomes
- Cancer Immunotherapy and Biomarkers
- Bioinformatics and Genomic Networks
- Genomics and Rare Diseases
- Protein Degradation and Inhibitors
- Cardiac electrophysiology and arrhythmias
- Multiple Myeloma Research and Treatments
- Genomics and Phylogenetic Studies
- RNA modifications and cancer
- Immune cells in cancer
- Biomedical Text Mining and Ontologies
- Genetics, Bioinformatics, and Biomedical Research
- Acute Myeloid Leukemia Research
- Genetic factors in colorectal cancer
- Epigenetics and DNA Methylation
- Genomics and Chromatin Dynamics
- Gene expression and cancer classification
- Neurological disorders and treatments
- Lung Cancer Treatments and Mutations
- Chronic Lymphocytic Leukemia Research
- Cancer therapeutics and mechanisms
- Monoclonal and Polyclonal Antibodies Research
Science for Life Laboratory
2020-2024
Karolinska Institutet
2019-2024
Karolinska University Hospital
2024
Institute for Research in Biomedicine
2017-2023
Universitat Pompeu Fabra
2013-2023
Hospital del Mar Research Institute
2016-2020
Heidelberg University
2020
Institució Catalana de Recerca i Estudis Avançats
2013-2020
Municipal Institute for Medical Research
2016-2018
Hospital Del Mar
2016
Identifying molecular cancer drivers is critical for precision oncology. Multiple advanced algorithms to identify now exist, but systematic attempts combine and optimize them on large datasets are few. We report a PanCancer PanSoftware analysis spanning 9,423 tumor exomes (comprising all 33 of The Cancer Genome Atlas projects) using 26 computational tools catalog driver genes mutations. 299 with implications regarding their anatomical sites cancer/cell types. Sequence- structure-based...
Systematic studies of cancer genomes have provided unprecedented insights into the molecular nature cancer. Using this information to guide development and application therapies in clinic is challenging. Here, we report how cancer-driven alterations identified 11,289 tumors from 29 tissues (integrating somatic mutations, copy number alterations, DNA methylation, gene expression) can be mapped onto 1,001 molecularly annotated human cell lines correlated with sensitivity 265 drugs. We find...
IntOGen-mutations is a discovery tool for cancer researchers to find driver mutations in genes and pathways. The platform ( http://www.intogen.org/mutations/ ) summarizes somatic mutations, pathways involved tumorigenesis. It identifies visualizes drivers, analyzing 4,623 exomes from 13 sites. provides support researchers, aids the identification of drivers across tumor cohorts helps rank better clinical decision-making.
The discovery of drivers cancer has traditionally focused on protein-coding genes
With the ability to fully sequence tumor genomes/exomes, quest for cancer driver genes can now be undertaken in an unbiased manner. However, obtaining a complete catalog of is difficult due heterogeneous molecular nature disease and limitations available computational methods. Here we show that combination complementary methods allows identifying comprehensive reliable list genes. We provide 291 high-confidence acting on 3,205 tumors from 12 different types. Among those genes, some have not...
While tumor genome sequencing has become widely available in clinical and research settings, the interpretation of somatic variants remains an important bottleneck. Here we present Cancer Genome Interpreter, a versatile platform that automates newly sequenced cancer genomes, annotating potential alterations detected tumors to act as drivers their possible effect on treatment response. The results are organized different levels evidence according current knowledge, which envision can support...
Gain-of-function mutations often cluster in specific protein regions, a signal that those provide an adaptive advantage to cancer cells and consequently are positively selected during clonal evolution of tumours. We sought determine the overall extent this feature possibility use identify drivers.We have developed OncodriveCLUST, method genes with significant bias towards mutation clustering within sequence. This constructs background model by assessing coding-silent mutations, which assumed...
The success rate of circumferential pulmonary vein ablation (CPVA) to treat atrial fibrillation (AF) ranges from 60 90%, depending on the series. objective study was identify predictors AF recurrence after a standardized CPVA procedure. A series 148 consecutive patients undergoing for symptomatic paroxysmal (60.8%), persistent (23.6%), or permanent (15.5%) refractory antiarrhythmic drugs were included in study. with creation supplementary block lines along posterior wall and mitral isthmus...
Abstract Purpose: Throughout their development, tumors are challenged by the immune system, and they acquire features to evade its surveillance. A systematic view of these traits, which shed light on how respond immunotherapies, is still lacking. Experimental Design: Here, we computed relative abundance an array cell populations measure infiltration pattern 9,174 29 solid cancers. We then clustered with similar define immunophenotypes. Finally, identified genomic transcriptomic traits...
There is a growing need for systems that efficiently support the work of medical teams at precision-oncology point care. Here, we present implementation Molecular Tumor Board Portal (MTBP), an academic clinical decision system developed under umbrella Cancer Core Europe creates unified legal, scientific and technological platform to share harness next-generation sequencing data. Automating interpretation reporting results decrease time-consuming manual procedures are prone errors. The...
AimsThe aetiology of atrial fibrillation (AF) remains unknown in some patients. The aim the study was to identify new risk factors for developing lone AF (LAF).
Chronic lymphocytic leukemia (CLL) has heterogeneous clinical and biological behavior. Whole-genome -exome sequencing contributed to the characterization of mutational spectrum disease, but underlying transcriptional profile is still poorly understood. We have performed deep RNA in different subpopulations normal B-lymphocytes CLL cells from a cohort 98 patients, characterized landscape with unprecedented resolution. detected thousands elements differentially expressed between B cells,...
Genome studies of diffuse large B-cell lymphoma (DLBCL) have revealed a number somatic mutations and structural alterations. However, the clinical significance these alterations is still not well defined. In this study, we integrated analysis targeted next-generation sequencing 106 genes genomic copy (CNA) in 150 DLBCL. The clinically significant findings were validated an independent cohort 111 patients. Germinal center activated DLBCL had differential profile mutations, altered pathogenic...
AimsAtrial fibrillation (AF) ablation efficacy varies according to patients' clinical characteristics. Although the association of obstructive sleep apnoea (OSA) and AF is well established, data on in OSA are scarce. The aim this study was clarify effect outcome ablation.
Background— Ablation of the pulmonary veins (PVs) for atrial fibrillation treatment is often combined with linear radiofrequency lesions along left atrium (LA) to improve success rate. The study was designed assess contribution LA posterior wall isolation outcome circumferential vein ablation (CPVA). Methods and Results— CPVA consisted continuous encircling both ipsilateral PVs plus an line mitral isthmus. Patients were then randomized into 2 groups. In first group, superior connected by...
We investigated the value of tumor-infiltrating NK (TI-NK) cells and HLA class I tumor expression as biomarkers response to neoadjuvant anti-HER2 antibody-based treatment in breast cancer.TI-NK HLA-I were determined by IHC pretreatment biopsies from two cohorts patients with HER2-positive cancer [discovery cohort (n = 42) validation 71)]. Tumor-infiltrating lymphocytes (TIL) scored according international guidelines. Biomarker association pathologic complete (pCR) disease-free survival (DFS)...