A5024838193- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- RNA modifications and cancer
- Cancer-related molecular mechanisms research
- Genetic factors in colorectal cancer
- Genomic variations and chromosomal abnormalities
- Ovarian cancer diagnosis and treatment
- Gastric Cancer Management and Outcomes
- Advanced Breast Cancer Therapies
- Cancer-related gene regulation
- Fibroblast Growth Factor Research
- Cancer Immunotherapy and Biomarkers
- Inflammatory Bowel Disease
- Endometrial and Cervical Cancer Treatments
- Genomics and Chromatin Dynamics
- Hedgehog Signaling Pathway Studies
- PARP inhibition in cancer therapy
- Autoimmune and Inflammatory Disorders
- Cancer Research and Treatments
- RNA Research and Splicing
- Genomics and Phylogenetic Studies
- Cancer Cells and Metastasis
- Renal and related cancers
- Management of metastatic bone disease
- Bone and Dental Protein Studies
i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto
2018-2024
Universidade do Porto
2018-2024
IPO Porto
2017-2024
University of Kentucky
2024
Instituto Europeu de Estudos Superiores
2024
Polytechnic Institute of Porto
2024
University of Beira Interior
2024
Universidade de Vigo
2024
Adelphi University
2024
European University Institute
2024
Proteomics is a powerful approach to study the molecular mechanisms of cancer. In this study, we aim characterize proteomic profile gastric cancer (GC) in patients with diabetes mellitus (DM) type 2. Forty GC tissue samples including 19 cases from diabetic and 21 individuals without (control group) were selected for proteomics analysis. Gastric tissues processed following single-pot, solid-phase-enhanced sample preparation approach—SP3 enzymatic digestion trypsin. The resulting peptides...
// Francisca Dias 1, 2, 3 , Ana Luísa Teixeira 2 Marta Ferreira 4 Bárbara Adem 5 Nuno Bastos Joana Vieira 6 Mara Fernandes Maria Inês Sequeira Joaquina Maurício Francisco Lobo 7 António Morais Jorge Oliveira Klaas Kok 8 and Rui Medeiros 5, 9 1 Molecular Oncology Viral Pathology Group, IPO-Porto Research Center (CI-IPOP), Portuguese Institute of Porto (IPO-Porto), Porto, Portugal Department, LPCC- League Against Cancer (NRNorte), ICBAS, Abel Salazar for the...
Background Familial intestinal gastric cancer (FIGC) remains genetically unexplained and without testing/clinical criteria. Herein, we characterised the age of onset disease spectrum 50 FIGC families searched for genetic causes potentially underlying a monogenic or an oligogenic/polygenic inheritance pattern. Methods Normal tumour DNA from probands were sequenced using Illumina custom panels on MiSeq, their respective germline somatic landscapes compared with corresponding sporadic (SIGC)...
Abstract Background Germline CDH1 pathogenic or likely variants cause hereditary diffuse gastric cancer (HDGC). Once a genetic is identified, stomachs’ and breasts’ surveillance and/or prophylactic surgery offered to asymptomatic carriers, which life-saving. Herein, we characterized an inherited mechanism responsible for extremely early-onset atypical HDGC high penetrance. Methods Whole-exome sequencing (WES) re-analysis was performed in unsolved family. Accessible chromatin promoter...
Background: Epstein-Barr Virus (EBV) positive and microsatellite unstable (MSI-high) gastric cancer (GC) are molecular subgroups with distinctive profiles. We explored the transcriptomic differences between EBV+ MSI-high GCs, expression of current GC immunotherapy targets such as PD-1, PD-L1, CTLA4 Dies1/VISTA. Methods: Using Nanostring Technology comparative bioinformatics, we analyzed 499 genes in 46 classified either EBV (EBER situ hybridization) or (PCR/fragment analysis). PD-L1 protein...
Gastric Cancer (GC) is one of the most common and deadliest types cancer in world. To improve GC prognosis, increasing efforts are being made to develop new targeted therapies. Although FGFR2 genetic amplification protein overexpression have been clinical trials, so far no improvement patient overall survival has found. address this issue, we studied epigenetic events affecting its splicing regulator ESRP1 that could be used as therapeutic targets or predictive biomarkers. We performed copy...
Abstract Background: Fibroblast growth factor receptor 1 (FGFR1) gene amplification and overexpression is associated with an adverse prognosis in hormone receptor–positive (HR+)/human epidermal 2–negative (HER2−) breast cancer observed ~10% of all invasive cancers. The phase 2 FOENIX-MBC2 study (NCT04024436) was designed to evaluate the effect futibatinib, a highly selective potent irreversible covalent inhibitor FGFR1–4 (FDA-approved for intrahepatic cholangiocarcinoma), used either alone...
Stricturing [B2] and penetrating [B3] ileal Crohn's disease have been reported to present similar levels of histopathological transmural fibrosis. This study aimed compare the fibrosis-related transcriptomic profiles stricturing disease.
Cancer has an important and considerable gender differential susceptibility confirmed by several epidemiological studies. Gastric (GC) thyroid cancer (TC) are examples of malignancies with a higher incidence in males females, respectively. Beyond environmental predisposing factors, it is expected that gender-specific gene deregulation contributes to this incidence. We performed detailed characterization the transcriptomic differences between genders normal tumor tissues from stomach using...
Transfer RNA fragments (tRFs) have gene silencing effects similarly to miRNAs, can be sorted into extracellular vesicles (EVs) and are emerging as potential circulating biomarkers for cancer diagnoses. We aimed at analyzing the expression of tRFs in gastric (GC) understanding their biomarkers. explored miRNA datasets from tumors normal adjacent tissues (NATs) TCGA repository, well proprietary 3D-cultured GC cell lines corresponding EVs, order identify differentially represented using MINTmap...
Cadherins are cell-cell adhesion molecules, fundamental for cell architecture and polarity. E-cadherin to P-cadherin switch can rescue adherens junctions in epithelial tumours. Herein, we disclose a mechanism gastric cancers. CDH1 CDH3 mRNA expression was obtained from 42 tumours' RNA-seq data. CRISPR-Cas9 used knock out putative regulatory element. CDH1-depleted parental cells were submitted proteomics enrichment GO terms analysis; ATAC-seq/4C-seq with promoter viewpoint assess chromatin...
Abstract Background: KEYNOTE-522 (NCT03036488) is a phase 3 study of neoadjuvant pembro + chemo vs placebo chemo, followed by adjuvant in patients with early-stage TNBC. The primary analysis showed statistically significant and clinically meaningful improvement event-free survival (EFS) pembro. To assess the robustness consistency EFS result, prespecified sensitivity subgroup analyses for were performed. Methods: Patients previously untreated, non-metastatic, centrally confirmed TNBC (stage...
Transitions between epithelial and mesenchymal cellular states (EMT/MET) contribute to cancer progression. We hypothesize that EMT followed by MET promotes cell population heterogeneity, favouring tumour growth. developed an model on off exposure of EpH4 cells (E-cells) TGFβ1 mimics phenotypic (M-cells) MET. aimed at understanding whether is accompanied molecular functional reversion back epithelia using RNA sequencing, immunofluorescence (IF), proliferation, wound healing, focus formation...
Abstract Background Fibrosis underlies most of CD complications requiring surgery, such as intestinal strictures and penetrating events. We previously demonstrated there were no histopathological differences on transmural fibrosis fibromuscular changesbetween stricturing ileal CD. This study aimed to investigate compare the fibrosis-related transcriptomic profiles Methods Using Nanostring technology comparative bioinformatics, we analysed expression 787 genes covering core pathways processes...
The purpose of this critical commentary is to provide insights about the impact funding structures on youth sport research and programming, with a particular focus priorities access quality experiences across competitive programs. Portugal used as case studyto how may be strategically positioned positively influence programs associated efforts. field sports constitutes complex network influenced by cultural, social, political factors, where multiple decision makers are driven requirements,...
Abstract Missing heritability in hereditary diffuse gastric cancer (HDGC) ranges from 60 to 90%. These HDGC-like families, despite complying with HDGC clinical criteria, lack CDH1 and CTNNA1 actionable germline variants, are not offered HDGC-targeted life-saving disease prevention measures. Herein, we explored novel predisposition mechanisms affecting the -regulatory network. We called single-nucleotide (SNV) copy-number variants (CNV) 19 probands whole-genome sequencing data performed...
Abstract Purpose Gastric cancer is the fifth most common malignant tumor worldwide. Many attempts have been made over years to investigate relationship between markers and risk of recurrence. This study aims explore predictive value measured in peritoneal washing during staging laparoscopy, regarding carcinomatosis mortality within 1 year. Methods Patients with locally advanced gastric cancer, staged as at least usT2anyNM0 were submitted laparoscopy a Portuguese single center. CA 19.9, CEA,...
Abstract Background: FGFR gene amplifications are found in 18% of breast cancers (BCs), with FGFR1 occurring ≈10% cases, predominantly hormone receptor-positive (HR+), human epidermal growth factor receptor 2-negative (HER2−) MBCs. associated resistance to endocrine therapy, and preclinical experiments, pathway inhibition has been shown overcome therapy BC harboring amplifications. Futibatinib, a highly selective, irreversible FGFR1-4 inhibitor, activity xenograft models FGFR1/2 In phase 1...
e17615 Background: Management of endometrial carcinoma (EC) relies on prognostic risk group classification to help determine the individual recurrence and need for adjuvant treatment after surgery. A molecular with four distinct EC subtypes based genomic abnormalities - DNA polymerase epsilon ( POLE) mutated POLEmut), mismatch repair deficient (MMRd), p53 abnormal (p53abn) no specific profile (NSMP) has emerged, that raises possibility a more precise tailoring therapy. This study aimed...