Pedro Castelo‐Branco
A5038704798- Epigenetics and DNA Methylation
- Glioma Diagnosis and Treatment
- Chromatin Remodeling and Cancer
- Histone Deacetylase Inhibitors Research
- Telomeres, Telomerase, and Senescence
- Cancer Genomics and Diagnostics
- Lung Cancer Treatments and Mutations
- Cancer Cells and Metastasis
- MicroRNA in disease regulation
- Nutrition, Genetics, and Disease
- Protein Degradation and Inhibitors
- Gastric Cancer Management and Outcomes
- Pancreatic and Hepatic Oncology Research
- Cancer Research and Treatments
- RNA modifications and cancer
- RNA Interference and Gene Delivery
- Virus-based gene therapy research
- Hedgehog Signaling Pathway Studies
- Prostate Cancer Treatment and Research
- CRISPR and Genetic Engineering
- Colorectal Cancer Treatments and Studies
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Mitochondrial Function and Pathology
- Neuroblastoma Research and Treatments
- Lung Cancer Diagnosis and Treatment
University of Algarve
2016-2025
Algarve Biomedical Center
2016-2025
Champalimaud Foundation
2021-2025
Universidade do Porto
2004-2018
Hospital for Sick Children
2011-2017
SickKids Foundation
2011-2017
Brain Tumour Research
2017
University of Toronto
2011-2016
Bausch Health (Germany)
2015
Occupational Cancer Research Centre
2014
Reports detailing the prognostic impact of TP53 mutations in medulloblastoma offer conflicting conclusions. We resolve this issue through inclusion molecular subgroup profiles.We determined affiliation, mutation status, and clinical outcome a discovery cohort 397 medulloblastomas. subsequently validated our results on an independent 156 medulloblastomas.TP53 are enriched wingless (WNT; 16%) sonic hedgehog (SHH; 21%) medulloblastomas virtually absent subgroups 3 4 tumors (P < .001). Patients...
To uncover the genetic events leading to transformation of pediatric low-grade glioma (PLGG) secondary high-grade (sHGG).We retrospectively identified patients with sHGG from a population-based cohort 886 PLGG long clinical follow-up. Exome sequencing and array CGH were performed on available samples followed by detailed analysis entire cohort. Clinical outcome data genetically distinct subgroups obtained.sHGG was observed in 2.9% PLGGs (26 patients). Patients had high frequency nonsilent...
Replicative immortality is a hallmark of cancer cells governed by telomere maintenance. Approximately 90% human cancers maintain their telomeres activating telomerase, driven the transcriptional upregulation telomerase reverse transcriptase (TERT). Although TERT promoter mutations (TPMs) are major cancer-associated genetic mechanism upregulation, many exhibit without TPMs. In this study, we describe hypermethylated oncological region (THOR), 433-bp genomic encompassing 52 CpG sites located...
Retroperitoneal lymph node dissection is recommended for residual masses greater than 1 cm after chemotherapy of nonseminomatous germ cell tumors. Currently there no reliable predictor post-chemotherapy retroperitoneal histology. Up to 50% patients harbor necrosis/fibrosis only so that a potentially morbid surgery has limited therapeutic value. In this study we evaluated the ability defined serum miRNAs predict viable tumors chemotherapy.Levels miRNA, including miR-371a-3p, miR-373-3p and...
Breast cancer is a highly heterogeneous disease resulting in diverse clinical behaviours and therapeutic responses. DNA methylation major epigenetic alteration that commonly perturbed cancers. The aim of this study to characterize the relationship between aberrant gene expression breast cancer. We analysed profiles from tissue matched normal Cancer Genome Atlas (TCGA). Genome-wide differential analysis methylation-gene correlation was performed. Gene changes were subsequently validated...
Polypyrimidine tract binding protein (PTB) is a major hnRNP with multiple roles in mRNA metabolism, including regulation of alternative splicing and internal ribosome entry site-driven translation.We show here that fourfold overexpression PTB results 75% reduction levels produced from transfected gene constructs different polyadenylation signals (pA signals).This effect due to the reduced efficiency 3 end cleavage, vitro analysis reveals competes CstF for recognition pA signal's...
In urothelial bladder cancer (UBC), risk stratification remains an important unmet need. Limitless self-renewal, governed by TERT expression and telomerase activation, is crucial for progression. Thus, activation through the interplay of mutations (TERTpMut ) epigenetic alterations in promoter may provide further insight into UBC behavior. Here, we investigated combined effect TERTpMut Hypermethylated Oncological Region (THOR) status on patient outcome a international cohort (n = 237). We...
// Pedro Castelo-Branco 1, 2, 3, * , Ricardo Leão 4, 5, Tatiana Lipman 1 Brittany Campbell Donghyun Lee Aryeh Price Cindy Zhang Abolfazl Heidari Derek Stephens Stefan Boerno 6 Hugo Coelho 5 Ana Gomes Celia Domingos 3 Joana D. Apolonio Georg Schäfer 11 Robert G. Bristow 7 Michal R. Schweiger 8, 9 Hamilton 4 Alexandre Zlotta 10 Arnaldo Figueiredo Helmut Klocker Holger Sültmann 12 Uri Tabori Arthur and Sonia Labatt Brain Tumor Research Center, The Hospital for Sick Children,...
Recent evidence from the fields of microbiology and immunology, as well a small number human sepsis studies, suggest that epigenetic regulation may play central role in pathogenesis sepsis. The term "epigenetics" refers to regulatory mechanisms control gene expression but are not related changes DNA sequence. These include methylation, histone modifications, transcription via non-coding RNAs. Epigenetic occurring response external stressors, lead expression, thus lie at intersection between...
Oncolytic herpes simplex viruses (HSVs) possess direct oncolytic and antiangiogenic activities are promising anticancer agents, but their efficacy, when used as single leaves room for improvement. We investigated whether combination therapy of HSV with histone deacetylase inhibitor trichostatin A (TSA), an agent that also targets cancer cells tumor vasculature, would result in enhanced efficacy. In vitro, TSA G47Δ showed strong synergy action against proliferating endothelial cells, varying...
Chromothripsis is a recently discovered form of genomic instability, characterized by tens to hundreds clustered DNA rearrangements resulting from single dramatic event. Telomere dysfunction has been suggested play role in the initiation this phenomenon, which occurs large number tumor entities. Here, we show that telomere attrition can indeed lead catastrophic events, and patterns differ between cells analyzed before after such catastrophes. length stabilization mechanisms diverge samples...
Epigenetic alterations are an important regulator of gene expression in health and disease; however, epigenetic data sepsis lacking. To demonstrate proof concept estimate effect size, we performed the first epigenome-wide methylation analysis whole blood DNA samples from a cohort septic nonseptic critically ill patients.