A5037794920- Genetic factors in colorectal cancer
- Epigenetics and DNA Methylation
- Cancer Genomics and Diagnostics
- Bladder and Urothelial Cancer Treatments
- Testicular diseases and treatments
- Colorectal Cancer Screening and Detection
- HER2/EGFR in Cancer Research
- Colorectal Cancer Treatments and Studies
- Cancer-related molecular mechanisms research
- Cancer and Skin Lesions
- MicroRNA in disease regulation
- Urinary and Genital Oncology Studies
- Immune Response and Inflammation
- Cancer-related gene regulation
- Breast Cancer Treatment Studies
- BRCA gene mutations in cancer
- Cancer Immunotherapy and Biomarkers
- Neuroblastoma Research and Treatments
- Metastasis and carcinoma case studies
- Lung Cancer Treatments and Mutations
- Helicobacter pylori-related gastroenterology studies
- Urologic and reproductive health conditions
- Histone Deacetylase Inhibitors Research
- Cancer Cells and Metastasis
- Sarcoma Diagnosis and Treatment
Instituto Português de Oncologia Francisco Gentil
2015-2024
Administração Regional de Saúde de Lisboa e Vale do Tejo
2024
IPO Porto
1998-2023
Hospital de Santo António
2023
Hospital de São Bernardo
2013-2022
Universidade do Porto
2020
Universidade Federal de Mato Grosso do Sul
2017
John Wiley & Sons (United States)
2015
Bioengineering Center
2015
National Center for Genetic Engineering and Biotechnology
2015
Background: Breast cancer (BrC) is the most frequent neoplasm in women. New biomarkers, including aberrant DNA methylation, may improve BrC management. Herein, we evaluated detection and prognostic performance of seven genes’ promoter methylation (APC, BRCA1, CCND2, FOXA1, PSAT1, RASSF1A SCGB3A1). Methods: Methylation levels were assessed primary tissues by quantitative methylation-specific polymerase chain reaction (QMSP) circulating cell-free (ccfDNA) multiplex QMSP from two independent...
Covalent RNA modifications, such as N-6-methyladenosine (m6A), have been associated with various biological processes, but their role in cancer remains largely unexplored. m6A dynamics depends on specific enzymes whose deregulation may also impact tumorigenesis. Herein, we assessed the differential abundance of m6A, its writer VIRMA and reader YTHDF3, testicular germ cell tumors (TGCTs), looking for clinicopathological correlates. In silico analysis TCGA data disclosed altered expression...
We evaluated expression of TLR2, TLR4 and proinflammatory genes [NF-κB, TNF-α, cyclooxygenase-2 (COX-2)] in liver samples patients different stages disease. Fifteen with unexplained transaminases elevation (reference group), 22 viral chronic hepatitis (hepatitis 14 virus-induced severe fibrosis/cirrhosis (cirrhosis group) 10 hepatocarcinoma (hepatocarcinoma were consecutively included the study. Quantification TLR4, NF-κB, TNF-α COX-2 mRNA was done by real-time RT-PCR TLR2 protein...
Abstract Background Toll‐like receptors ( TLR ) are essential for H elicobacter pylori HP recognition. Their role in the progression of gastric lesions leading to cancer is not established. Aim To evaluate first time humans expression 2, 4, and 5, as well other related molecules entire sequence lesions. Methods Biopsy samples (n = 80, 48% +) from normal mucosa, gastritis, metaplasia, dysplasia or adenocarcinoma were obtained 44 patients. m RNA quantification T oll‐interacting protein TOLLIP...
Testicular germ cell tumours (TGCTs) are a heterogeneous group of neoplasms, mostly affecting young men. Curability rates high and adequate treatment relies on careful accurate pathological clinical assessment. Indeed, TGCTs' histopathological subtyping is critical for therapeutic decision. Considering the limitation currently available serum biomarkers, novel candidates have been proposed, most notably miR-371a-3p, which outperformed classical markers, but no detailed information concerning...
Background: The immune infiltrate plays an important part in testicular germ cell tumors, but it remains scarcely studied. We aimed at thoroughly characterizing the and expression of checkpoints PD-L1/CTLA-4 mismatch repair (MMR) proteins these neoplasms, seeking for associations with patient outcome. Methods: A total 162 consecutively diagnosed patients (2005–2018) were included. Immunostaining PD-L1, CTLA-4 MMR was independently assessed both cells (ICs) tumor (TCs) primary tumors...
Abstract Background KRAS is an EGFR effector in the RAS/RAF/ERK cascade that mutated about 40% of metastatic colorectal cancer (mCRC). Activating mutations codons 12 and 13 gene are only established negative predictors response to anti-EGFR therapy patients whose tumors harbor such not candidates for therapy. However, 40 60% wild-type cases do respond therapy, suggesting involvement other genes act downstream RAS-RAF-MAPK PI3K-AKT pathways or activating at locations gene. Methods DNA was...
Aim: Assess differential patterns of selected five genes' promoter methylation among testicular germ cell tumors (TGCT) subtypes. Materials & methods: CRIPTO, HOXA9, MGMT, RASSF1A and SCGB3A1 levels were evaluated by quantitative methylation-specific PCR in 161 TGCT 16 controls. Associations between clinicopathological parameters assessed, receiver operating characteristics curve analysis was performed. Results: Promoter CRIPTO/HOXA9/SCGB3A1 panel best discriminated controls nonseminomatous...
Abstract Despite all the knowledge already gathered, picture of somatic genetic changes in colorectal tumorigenesis is far from complete. Recently, germline and mutations exonuclease domain polymerase epsilon, catalytic subunit ( POLE ) gene have been reported a small subset microsatellite‐stable hypermutated carcinomas CRC s), affecting proofreading activity enzyme leading to misincorporation bases during DNA replication. To evaluate role carcinogenesis, namely advanced , we searched for by...
Colorectal cancer (CRC) is one of the most incident cancers, associated with significant morbidity and mortality, usually classified into three main molecular pathways: chromosomal instability, microsatellite instability (MSI) CpG island methylator phenotype (CIMP). Currently, available screening methods are either costly or limited specificity, impairing global implementation. More cost-effective strategies, including DNA methylation-based tests, might prove advantageous. Although some...
Breast cancer (BrC) is the most frequent malignancy and leading cause of death among women worldwide. Approximately 70% BrC are classified as luminal-like subtype, expressing estrogen receptor. One common effective adjuvant therapies for this subtype endocrine therapy. However, its effectiveness limited, with relapse occurring in up to 40% patients. Because microRNAs have been associated several mechanisms underlying resistance sensitivity, they may serve predictive and/or prognostic...
MicroRNAs have emerged as new diagnostic and therapeutic biomarkers for breast cancer. Herein, we analysed miR-99a-5p expression levels in primary tumours plasma of cancer patients to evaluate its usefulness a minimally invasive biomarker. MiR-99a-5p were determined by quantitative real-time PCR three independent cohorts patients: (I) Discovery cohort: tissues (n = 103) healthy 26); (II) Testing samples from 105 98 donors; (III) Validation 89 85 donors. Our results demonstrated that was...
Background Animal data suggest that Toll-like receptors (TLR) may play an important role in colon carcinogenesis. Studies humans to support hypothesis are scarce. Aim To evaluate the expression of TLR2, TLR4 and TLR5, several other related molecules, different human colonic lesions. Methods Colon biopsy samples from normal mucosa, mucosa adjacent lesion, adenoma or sporadic carcinoma were obtained 35 consecutive patients undergoing colonoscopy. Quantification TLR4, Toll-interacting protein...
We previously reported that the target genes in sporadic mismatch repair (MMR)-deficient colorectal carcinomas (CRCs) distal colon differ from those occurring elsewhere colon. This study aimed to compare gene mutational pattern microsatellite instability (MSI) CRC Lynch syndrome patients stratified by tumour location and germline mutation, as well with of disease. A series was analysed for MSI predicted be selective targets known involved several pathways carcinogenesis. The most frequently...
Constitutional epimutation of the two major mismatch repair genes, MLH1 and MSH2, has been identified as an alternative mechanism that predisposes to development Lynch syndrome. In present work, we aimed investigate prevalence constitutional methylation in colorectal cancer (CRC) patients with abnormal expression protein their tumors. a series 38 who met clinical criteria for syndrome genetic testing, loss tumor no germline mutations gene (35/38) or tumors presenting BRAF p.Val600Glu...
Abstract Background Breast cancer (BrC) remains the leading cause of cancer-related death in women, mainly due to recurrent and/or metastatic events, entailing need for biomarkers predictive progression advanced disease. MicroRNAs hold promise as noninvasive their inherent stability and resilience tissues bodily fluids. There is increasing evidence that specific microRNAs play a functional role at different steps cascade, behaving signaling mediators enable colonization organ. Herein, we...
Bladder cancer (BlCa) is the tenth most frequent malignancy worldwide and costliest to treat monitor. Muscle-invasive BlCa (MIBC) has a dismal prognosis, entailing need for alternative therapies standard radical cystectomy. Checkpoint blockade immunotherapy been approved high-grade non-muscle-invasive (HG NMIBC) metastatic disease, but its effectiveness in localised MIBC remains under scrutiny. Herein, we sought characterise compare immune infiltrate of HG NMIBC samples, including ICOS...
Approximately 80% of bladder tumors are urothelial superficial papillary carcinomas (USPC). Despite a generally good prognosis, these have strong propensity to recur and about 1/3 them compared disease progression. Histological assessment is not sufficiently discriminator in predicting prognosis; therefore, we decided evaluate the prognostic significance p53 Ki-67 immunoexpression low-grade (GI-II) USPC order predict potential outcome tumors. P53 were studied function recurrence-free...