A5082221494- Thyroid Cancer Diagnosis and Treatment
- Cancer, Hypoxia, and Metabolism
- Adrenal and Paraganglionic Tumors
- Computational Drug Discovery Methods
- Cancer-related Molecular Pathways
- Renal cell carcinoma treatment
- Epigenetics and DNA Methylation
- Bioinformatics and Genomic Networks
- RNA modifications and cancer
- Hormonal Regulation and Hypertension
- Cancer Treatment and Pharmacology
- Renal and related cancers
- Cancer Genomics and Diagnostics
- Pituitary Gland Disorders and Treatments
- Ferroptosis and cancer prognosis
- BRCA gene mutations in cancer
- Melanoma and MAPK Pathways
- 14-3-3 protein interactions
- Cancer, Lipids, and Metabolism
- Ubiquitin and proteasome pathways
- MicroRNA in disease regulation
- HER2/EGFR in Cancer Research
- Mitochondrial Function and Pathology
- Gene expression and cancer classification
- RNA Research and Splicing
Spanish National Cancer Research Centre
2016-2025
Instituto de Salud Carlos III
2007-2025
Centre for Biomedical Network Research on Rare Diseases
2021-2025
Research Institute Hospital 12 de Octubre
2024
Instituto de Investigación de Enfermedades Raras
2022-2023
Cancer Genetics (United States)
2023
Centro de Investigación Biomédica en Red
2021
Memorial Sloan Kettering Cancer Center
2012-2017
Centro de Investigación del Cáncer
2009-2017
Instituto de Investigaciones Biomédicas Sols-Morreale
2009-2012
Exposure to ionizing radiation during childhood markedly increases the risk of developing papillary thyroid cancer. We examined tissues from 26 Ukrainian patients with cancer who were younger than 10 years age and living in contaminated areas time Chernobyl nuclear reactor accident. identified nonoverlapping somatic driver mutations all cases through candidate gene assays next-generation RNA sequencing. found that 22 tumors harbored fusion oncogenes arose primarily intrachromosomal...
Abstract The mechanisms triggering metastasis in pheochromocytoma/paraganglioma are unknown, hindering therapeutic options for patients with metastatic tumors (mPPGL). Herein we show by genomic profiling of a large cohort mPPGLs that high mutational load, microsatellite instability and somatic copy-number alteration burden associated ATRX / TERT alterations suitable prognostic markers. Transcriptomic analysis defines the signaling networks involved acquisition competence establishes gene...
The beta-tubulins are microtubule components encoded by a multigene family, which produces slightly different proteins with complex expression patterns. Several widely used anticancer drugs base their activity on beta-tubulin binding, dynamics alteration, and cell division blockage. of these drug targets in tumoral normal cells could be crucial importance for therapy outcome, unfortunately, the patterns have been poorly characterized human. In this study, we developed quantitative RT-PCR...
The six major genes involved in hereditary susceptibility for pheochromocytoma (PCC)/paraganglioma (PGL) (RET, VHL, NF1, SDHB, SDHC, and SDHD) have been recently integrated into the same neuronal apoptotic pathway where mutations any of these lead to cell death. In this model, prolyl hydroxylase 3 (EglN3) abrogation plays a pivotal role, but molecular mechanisms underlying its inactivation are currently unknown. aim study was decipher specific alterations associated with different genetic...
In order to identify genetic factors related thyroid cancer susceptibility, we adopted a candidate gene approach. We studied tag- and putative functional SNPs in genes involved cell differentiation proliferation, found be differentially expressed carcinoma. A total of 768 97 were genotyped Spanish series 615 cases 525 controls, the former comprising largest collection patients with this pathology from single population date. an LD block spanning entire FOXE1 showed strongest evidence...
The presence of familial history in pheochromocytoma/paraganglioma patients, including syndromic antecedents, leads the majority cases to a positive genetic testing for mutations one major susceptibility genes described so far. Furthermore, it has been reported that absence about 11-24% patients also carry mutation these related genes. In cases, other clinical aspects like bilaterality, multiplicity, location tumors, or age at onset can help recognize underlying involved.The objective study...
Radioiodide (RAI) therapy of thyroid cancer exploits the relatively selective ability cells to transport and accumulate iodide. Iodide uptake requires expression critical genes that are involved in various steps hormone biosynthesis. ERK signaling, which is markedly increased driven by oncogenic BRAF, represses genetic program enables iodide transport. Here, we determined a threshold for inhibition MAPK signaling required optimally restore differentiation mice with BrafV600E-induced cancer....
<h3>Background</h3> Nowadays, 65–80% of pheochromocytoma and paraganglioma (PPGL) cases are explained by germline or somatic mutations in one 22 genes. Several genetic testing algorithms have been proposed, but they usually exclude sporadic-PPGLs (S-PPGLs) none include testing. We aimed to genetically characterise S-PPGL propose an evidence-based algorithm for testing, prioritising DNA source. <h3>Methods</h3> The study included 329 probands fitting three criteria: single PPGL, no syndromic...
Therapeutic options for patients with metastatic medullary thyroid carcinoma (MTC) are limited due to lack of effective treatments. Thus, there is a need thoroughly characterize the pathways molecular pathogenesis and identify potential targets therapy in MTC. Since epidermal growth factor receptor (EGFR) seems play crucial role RET activation, key feature MTCs, several promising EGFR/vascular endothelial 2 (VEGFR2)-targeted drugs have been developed, present study was designed investigate...
Genetic diagnosis is recommended for all pheochromocytoma and paraganglioma (PPGL) cases, as driver mutations are identified in approximately 80% of the cases. As list related genes expands, genetic becomes more time-consuming, targeted next-generation sequencing (NGS) has emerged a cost-effective tool. This study aimed to optimize NGS PPGL diagnostics. A workflow based on two customized assays was validated 18 main germline frozen tumor DNA, with one them specifically directed toward...
Rationale: Microvascular obstruction (MVO) following percutaneous coronary intervention (PCI) is a common problem associated with adverse clinical outcomes.We are developing novel treatment, termed sonoreperfusion (SRP), to restore microvascular patency.This entails using ultrasound-targeted microbubble cavitation (UTMC) of intravenously administered gas-filled lipid microbubbles (MBs) dissolve obstructive microthrombi in the microvasculature.In our prior work, we used standard-sized MBs.In...
Purpose: Papillary renal cell carcinoma (pRCC), the second most common subtype of cancer, exhibits heterogeneity in molecular features and response to targeted therapies, including antiangiogenic drugs. Discovering biomarkers able stratify pRCC patients into clinically relevant subgroups understanding underlying mechanisms are urgently needed advance precision medicine. Here, we molecularly dissect a large series through hypoxia inducible factors (HIF) activity, master regulator...
Background: Distant metastases (DM) are the leading cause of thyroid cancer-related death in patients with differentiated cancer (DTC). Despite significant progress understanding DNA methylation DTC, landscape metastatic primary tumors and DM remains unclear. Our objective was to investigate dynamics during DTC progression, a secondary goal assessing potential clinical implications. Materials Methods: We conducted multicenter retrospective study who underwent surgery at five university...
Pheochromocytoma and paraganglioma are rare neuroendocrine tumors that arise in the adrenal medulla extra-adrenal paraganglia, respectively. Inheritance of these is mainly a result mutations affecting VHL, RET, NF1, SDH genes. Germ-line genes have been found to account for nearly 10% apparently sporadic cases. Nevertheless, alterations other than point not yet well characterized. In this study, we investigated frequency gross deletions 24 patients who tested negative had at least one...
The transcription factor Pax8 is essential for the differentiation of thyroid cells. However, there are few data on genes transcriptionally regulated by other than thyroid-related genes. To better understand role in biology cells, we obtained transcriptional profiles Pax8-silenced PCCl3 cells using whole genome expression arrays and integrated these signals with global cis-regulatory sequencing studies performed ChIP-Seq analysisExhaustive analysis immunoprecipitated peaks demonstrated...
It is critical to identify biomarkers and functional networks associated with aggressive thyroid cancer anticipate disease progression facilitate personalized patient management. We performed miRNome sequencing of 46 tumors enriched advanced patients a median follow‐up 96 months. MiRNome profiles correlated tumor‐specific histopathological molecular features, such as stromal cell infiltration tumor driver mutation. Differential expression analysis revealed consistent hsa‐miR‐139‐5p...
Clear cell renal carcinoma (ccRCC) is the most common malignant neoplasm of kidney. The majority hereditary and sporadic ccRCC cases are associated with germline somatic mutations in Von Hippel-Lindau gene (VHL), respectively. Gross deletions at VHL locus can result either or a mild clinical phenotype, absence development. Our goal this study was to identify molecular basis responsible for these differences behavior order predict patients' phenotype. Using multiplex ligation-dependent...