A5103003515- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Colorectal Cancer Screening and Detection
- Colorectal and Anal Carcinomas
- Colorectal Cancer Treatments and Studies
- Multiple and Secondary Primary Cancers
- Cancer, Hypoxia, and Metabolism
- Lung Cancer Treatments and Mutations
- Gastrointestinal Bleeding Diagnosis and Treatment
- Gastrointestinal Tumor Research and Treatment
- Epigenetics and DNA Methylation
- Metabolomics and Mass Spectrometry Studies
- Cancer Cells and Metastasis
- Gastric Cancer Management and Outcomes
- Genomic variations and chromosomal abnormalities
- Advanced Breast Cancer Therapies
- Sulfur Compounds in Biology
- DNA Repair Mechanisms
- Colorectal Cancer Surgical Treatments
- Maternal and Neonatal Healthcare
- Cancer Treatment and Pharmacology
- Global Maternal and Child Health
- Cancer-related gene regulation
- Autopsy Techniques and Outcomes
- Forensic Anthropology and Bioarchaeology Studies
Hospital Universitario Araba
2024
Instituto Português de Oncologia de Coimbra Francisco Gentil
2011-2024
Instituto Português de Oncologia Francisco Gentil
2018-2023
The Radiosurgery Society
2023
University of Dental Medicine
2020
University of Lisbon
2020
Metabolic remodeling is crucial in carcinogenesis and cancer progression. Oncogenic mutations may promote metabolic reprogramming cells to support their energy biomass requirements. EGFR are commonly found non-small cell lung (NSCLC) induce NSCLC rewiring. Whether EGFR-driven triggers vulnerabilities with therapeutic potential remains unknown.The role of signaling activation by EGF was investigated using lines different KRAS status: A549 (EGFR WT c.34G > A), H292 WT) PC-9 exon 19 E746-A750...
Introduction: Colorectal cancer (CRC) is extremely rare in pediatric age. A poor outcome has been reported. Aims: We aimed to characterize a group of CRC patients. Materials and Methods: All patients with below 18 years old registered our Familial Cancer Risk Clinic (2002-2016) were included. Clinical histologic features evaluated. Germline mutations, microsatellite instability, DNA mismatch repair proteins expression analyzed. Results: Five included (3 males; mean age at diagnosis: 14.2...
Original Bethesda Guidelines proposed microsatellite instability analysis in colorectal adenomas from patients younger than aged 40 years to identify new cases of Lynch syndrome. We intended evaluate the characteristics determine their status and correlate it with germline mutations MLH1 MSH2 genes.Seventy-two 58 were analyzed. Family history cancer, location, histology evaluated. Microsatellite testing was performed BAT26 only or complete panel. Germline mutational genes.Thirty-five had a...
Recognition of a hereditary colorectal cancer (CRC) syndrome is crucial and Lynch Syndrome (LS) the most frequent immunohistochemistry (IHC)-screening for mismatch repair proteins (MMR) deficiency in CRC therefore advocated. An unicentric cohort study was conducted central Oncological Hospital to assess its results. All patients under 70 years-old admitted between July 2017-June 2019 submitted surgery were included. Of 275 patients, 56.0% male, median age 61.0 (IQR:54.5-65.0), with...
The most well-characterized hereditary form of gastric cancer is diffuse (HDGC), an autosomal dominant syndrome characterized by increased risk and lobular breast cancer. HDGC predominantly caused germline pathogenic variants in the CDH1 gene, more rarely CTNNA1 gene. Furthermore, International Gastric Cancer Linkage Consortium (IGCLC) guidelines do not clarify whether or mixed (with a component) should be considered genetic testing criteria. We aimed to evaluate contribution CTNND1 HDGC....
Hereditary nonpolyposis colorectal carcinoma (HNPCC) significantly raises the risk of developing (CRC) and other extracolonic tumors. It is defined by Amsterdam Criteria associated with germline mutations in mismatch repair genes, primarily MLH1 MSH2. The objectives current study were to evaluate presence CRC (Type I) tumors II) families HNPCC analyze findings for correlations MSH2 genes.Seventy an diagnosis analyzed. Denaturing gradient gel electrophoresis direct sequencing used mutation...
Justificativa: Estimasse um retrocesso para as mulheres em mais de vinte anos causado pelas transformações provocadas partir da crise sanitária COVID-19. O Objetivo desta pesquisa é analisar a morbimortalidade idade fértil nos períodos pré-pandêmico e pandêmico COVID-19 no estado do Paraná. Método: estudo observacional, analítico retrospectivo. As fontes dados foram das Autorização Internação Hospitalar, retiradas Departamento Informática Sistema Único Saúde. Foram filtradas Autorizações...
Serrated polyposis syndrome (SPS) is characterized by the development of multiple colorectal serrated polyps and increased predisposition to cancer (CRC). However, molecular basis SPS, especially in cases presenting family history SPS and/or CRC first-degree relatives (SPS-FHP/CRC), still poorly understood. In a previous study, we proposed existence two entities amongst SPS-FHP/CRC families, proximal/whole-colon distal SPS-FHP/CRC, according preferential location lesions somatic events...
The mutational spectrum of the MMR genes is highly heterogeneous, but specific mutations are observed at high frequencies in well-defined populations or ethnic groups, due to founder effects. MSH2 mutation c.2152C>T, p.(Gln718*), has occasionally been described Lynch families worldwide, including Portuguese syndrome families. During genetic testing for Oncology Institutes Porto and Lisbon, this was identified 28 seemingly unrelated In order evaluate if alteration a mutation, haplotype...
Lung cancer is a lethal disease with no truly efficient therapeutic management despite the progresses, and metabolic profiling can be way of stratifying patients who may benefit from new therapies. The present study dedicated to cysteine pathways in NSCLC cell lines tumor samples. This was carried out by analyzing hydrogen sulfide (H2S) ATP levels, examining mRNA protein expression patterns catabolic enzymes transporters, conducting metabolomics analysis using nuclear magnetic resonance...